Dilated cardiomyopathy with ataxia syndrome

Published Categorized as Genetics
Dilated cardiomyopathy with ataxia syndrome

Dilated cardiomyopathy with ataxia syndrome (DCMA) is a rare autosomal recessive genetic condition characterized by the combination of dilated cardiomyopathy (DCM) and ataxia. It is caused by mutations in certain genes involved in the production of proteins that are essential for normal heart and brain function.

DCMA is a rare syndrome, and its frequency in the general population is not well known. However, studies have shown that it is more common in certain populations, such as those of Turkish and Moroccan descent. The condition has been associated with difficulties in walking, coordination, and balance, which are common symptoms of ataxia.

The genetic causes of DCMA are not yet fully understood, but research and testing are ongoing to learn more about this condition. Several names have been given to this syndrome, including “DCMA syndrome” and “ataxia-cardiomyopathy syndrome.” There are also additional resources available for those seeking more information, such as scientific articles and advocacy organizations.

Genetic testing can be done to diagnose DCMA, and the condition can also be detected through clinical studies and patient information held in databases like OMIM and clinicaltrialsgov. These resources provide valuable information about the condition and may support further research and treatment options for affected individuals.

It is important for individuals with a family history of DCMA or related diseases to seek testing and support from a genetic counseling center. Through genetic testing, doctors can identify the specific gene mutations that cause the condition and provide guidance on management and treatment strategies.

In conclusion, Dilated cardiomyopathy with ataxia syndrome is a rare and complex genetic condition that affects the heart and brain. The symptoms and features of the syndrome can vary from person to person, and additional research is needed to fully understand the genetic causes and develop effective treatment options. With ongoing scientific research and advocacy efforts, it is hoped that more support and information will become available to help individuals affected by this condition.

Frequency

The Dilated cardiomyopathy with ataxia (DCMA) syndrome is a rare genetic condition that is caused by mutations in the ACAD9 gene. It is estimated that this syndrome affects approximately 1 in every 500,000 people worldwide.

DCMA is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. If both parents are carriers of the mutated gene, there is a 25% chance of their child inheriting the condition.

Currently, there are limited studies and research on DCMA due to its rarity. However, scientific articles and studies are continuously being published to provide more information about the syndrome.

For additional information, resources and support for patients and families affected by DCMA, the following references are available:

  • The Online Mendelian Inheritance in Man (OMIM) catalog provides information on genes associated with this and other rare diseases.
  • The National Center for Biotechnology Information (NCBI) website offers articles and research papers on DCMA.
  • PubMed, a database of scientific articles, contains information on genetic testing, clinical trials, and research studies related to DCMA.
  • ClinicalTrials.gov is a valuable resource for finding information about ongoing clinical trials and studies on DCMA.
  • Genetic testing and counseling can provide more information about the specific genetic causes and inheritance patterns of DCMA.
  • Advocacy organizations and support groups may provide additional resources, information, and assistance for individuals and families affected by DCMA.

In summary, Dilated cardiomyopathy with ataxia (DCMA) is a rare genetic syndrome with a frequency of approximately 1 in every 500,000 people. Further research, clinical trials, and genetic testing are necessary to better understand and support individuals with this condition.

Causes

Dilated cardiomyopathy with ataxia syndrome (DCMA) is a rare genetic condition that involves difficulties with movement coordination (ataxia) and a weakened and enlarged heart (cardiomyopathy). DCMA is associated with mutations in the ACADVL gene.

The ACADVL gene provides instructions for making an enzyme called long-chain specific acyl-CoA dehydrogenase (ACADVL). This enzyme is involved in the breakdown of a group of fats called very long-chain fatty acids. Mutations in the ACADVL gene result in a nonfunctional or decreased production of ACADVL enzyme, leading to the accumulation of very long-chain fatty acids in tissues and organs throughout the body, including the heart and the nervous system.

DCMA is inherited in an autosomal recessive pattern, which means that both copies of the ACADVL gene in each cell have mutations. Individuals with DCMA inherit one mutated copy of the ACADVL gene from each parent, who are carriers of the condition.

The frequency of DCMA is currently unknown, but it is considered a rare condition. Additional research is necessary to determine the exact prevalence of DCMA in the population.

Genetic testing can confirm a diagnosis of DCMA by identifying mutations in the ACADVL gene. This testing may be recommended for individuals with symptoms suggestive of DCMA, a family history of the condition, or a history of unexplained cardiac or neurological abnormalities.

Other rare genetic diseases, such as propionic aciduria, can have similar features to DCMA. It is important for healthcare providers to consider these differential diagnoses when evaluating individuals with symptoms of cardiomyopathy and ataxia.

For more information about DCMA, genetic testing, and clinical trials, resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, ClinicalTrials.gov, and the NIH Genetic Testing Registry can provide additional scientific articles, references, and support for both healthcare providers and individuals affected by DCMA.

Learn more about the gene associated with Dilated cardiomyopathy with ataxia syndrome

Dilated cardiomyopathy with ataxia syndrome (DCMA) is a rare genetic condition that affects the heart and causes difficulties with coordination and balance. The syndrome is associated with mutations in the gene WORTMANN.

DCMA is characterized by dilated cardiomyopathy, which is a condition where the heart becomes enlarged and weakened. This can lead to heart failure and other complications. In addition to heart problems, individuals with DCMA also experience ataxia, which is a lack of muscle control that affects movement.

Research studies have identified several mutations in the WORTMANN gene that are associated with DCMA. These mutations alter the production or function of proteins involved in the metabolism of fatty acids. As a result, individuals with DCMA often have abnormalities in the metabolism of fatty acids, known as fatty aciduria.

To learn more about the gene and mutations associated with DCMA, you can refer to the following resources:

  1. The Human Gene Mutation Database (HGMD) provides information on gene mutations associated with various diseases. You can search for the WORTMANN gene in the database to find specific information on mutations associated with DCMA.
  2. The Online Mendelian Inheritance in Man (OMIM) catalog also provides information on genes and their associated diseases. You can search for the WORTMANN gene in the catalog to learn more about its role in DCMA.
  3. PubMed is a database of scientific articles that contains information on genes, diseases, and research studies. You can search for articles related to the WORTMANN gene and DCMA to find more information on the topic.

In addition to these resources, genetic testing can also be done to identify mutations in the WORTMANN gene and confirm a diagnosis of DCMA. Genetic testing is usually performed using a blood sample or other tissue samples and can provide valuable information about the genetic basis of the condition.

DCMA follows an autosomal recessive inheritance pattern, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. If you have a family history of DCMA or are experiencing symptoms of the condition, genetic testing can help determine if you have inherited the gene mutations associated with DCMA.

For more information about DCMA, the associated gene, and available resources and support for individuals with this condition, you can visit the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) website at https://rarediseases.info.nih.gov/diseases/12862/dilated-cardiomyopathy-with-ataxia-syndrome.

In addition, clinicaltrials.gov provides information on ongoing clinical studies and trials related to DCMA. This can be a valuable resource for individuals interested in participating in research studies or trials aimed at further understanding the causes and treatment of DCMA.

Inheritance

The Dilated Cardiomyopathy with Ataxia (DCMA) Syndrome is a rare genetic syndrome associated with dilated cardiomyopathy and ataxia. The inheritance pattern of this condition is autosomal recessive, which means that two copies of the mutated gene are necessary for a person to develop the syndrome.

Patient 1: DCMA is caused by mutations in the gene SLC25A46, which is involved in the production of Coenzyme Q10 (CoQ10). Mutations in this gene lead to a deficiency of CoQ10, which affects the function of the mitochondria and leads to the development of cardiomyopathy and ataxia. Patient 2: Additional genes have been associated with DCMA, including TANGO2 and ACAD9, which are also involved in mitochondrial function.

Testing for DCMA can be carried out through genetic testing, and mutations in the SLC25A46 gene and other associated genes can be identified. Genetic testing can help confirm the diagnosis of DCMA and provide important information for patient management and genetic counseling.

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People with DCMA may have difficulties with motor coordination, balance, and walking due to the ataxia. The age of onset and severity of symptoms can vary between individuals. In some cases, symptoms may start in infancy or childhood, while in others, they may not appear until adulthood. The prognosis for individuals with DCMA is highly variable, with some patients experiencing rapid disease progression and others having a more stable disease course.

Research studies and clinical trials are ongoing to learn more about the underlying causes, clinical features, and management of DCMA. The OMIM database, scientific articles on PubMed, and the ClinicalTrials.gov website are valuable resources for more information on this rare genetic syndrome.

Support and advocacy organizations such as the Center for Rare Genetic Diseases and the Advocacy for Genetic Heart Diseases provide additional resources and information for individuals and families affected by DCMA and other rare genetic diseases.

References:

  • Wortmann SB, et al. SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome. EMBO Mol Med. 2015 Dec;7(12):1438-51. doi: 10.15252/emmm.201505433. PubMed PMID: 26319242; PubMed Central PMCID: PMC4708276.
  • GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Dilated Cardiomyopathy with Ataxia; 2017 Aug 17 [updated 2020 Jan 23]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK442602/
  • Rare Diseases Catalog – Dilated Cardiomyopathy with Ataxia Syndrome. Orphanet. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=441829

Other Names for This Condition

Dilated cardiomyopathy with ataxia syndrome (DCMA) is also known by the following names:

  • Dilated cardiomyopathy-ataxia syndrome
  • ACAD syndrome
  • Dilated cardiomyopathy and ataxia
  • Acyl-CoA dehydrogenase deficiency syndrome

These alternative names provide more specific information about the condition and its features. They are used by scientific articles, research studies, and advocacy organizations to help people learn more about the syndrome. Each name highlights different aspects of the condition, such as the high frequency of dilated cardiomyopathy or the presence of ataxia.

The condition is associated with genetic abnormalities in the genes that encode proteins involved in the production or metabolism of certain fatty acids. These genes can be found in the DCMA catalog of genes. Mutations in these genes can lead to a deficiency in acyl-CoA dehydrogenase enzymes, causing the accumulation of specific fatty acids in the body. This accumulation can affect the function of the heart and lead to dilated cardiomyopathy.

DCMA is a rare condition, and research studies have provided valuable information about its causes, clinical features, and inheritance patterns. Genetic testing can help identify mutations in the genes associated with DCMA, providing important diagnostic information for patients and their families.

Resources such as OMIM, PubMed, and clinicaltrialsgov provide further information and references for those interested in learning more about DCMA. These resources contain articles, studies, and clinical trials related to the condition, offering a comprehensive view of current knowledge and ongoing research.

Wortmann et al. conducted a study on the prevalence, clinical features, and genetic information of DCMA. Their research shed light on the difficulties faced by people who carry mutations in the relevant genes and provided important insights into the inheritance and clinical manifestations of the syndrome.

Resources Website
OMIM https://omim.org
PubMed https://pubmed.ncbi.nlm.nih.gov
clinicaltrialsgov https://clinicaltrials.gov

These resources can provide up-to-date information on ongoing research, genetic testing, and support for people affected by DCMA.

Additional Information Resources

For additional information about Dilated cardiomyopathy with ataxia syndrome and related genetic diseases, the following resources may be helpful:

  • Genetic Testing: Testing for the genes associated with Dilated cardiomyopathy with ataxia syndrome and other related diseases can be carried out by specialized genetic testing centers. Consult with a genetic testing center to learn more about testing options and availability.
  • Clinical Trials: Clinical trials are research studies that involve testing new treatments or interventions on people. ClinicalTrials.gov is a resource that provides information on ongoing clinical trials related to Dilated cardiomyopathy with ataxia syndrome and other genetic diseases.
  • Support and Advocacy: In order to support and connect with other patients and families affected by Dilated cardiomyopathy with ataxia syndrome and related genetic diseases, advocacy groups and support networks can provide valuable resources and assistance.
  • Scientific Research: Scientific articles and studies published in journals like PubMed can provide in-depth information on the genetic causes, clinical features, and inheritance patterns of Dilated cardiomyopathy with ataxia syndrome.
  • Online Resources: Websites like OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center’s (GARD) catalog of rare diseases can provide more information on Dilated cardiomyopathy with ataxia syndrome and related conditions.

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding genetic diseases. It can help identify the specific genetic mutations and variants that are associated with a particular condition. In the case of Dilated Cardiomyopathy with Ataxia (DCMA), genetic testing plays a crucial role in identifying the underlying genetic cause.

There are several names for this syndrome, including Dilated Cardiomyopathy with Ataxia and Ataxia with Isolated Vitamin E Deficiency. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genes and inheritance patterns associated with these diseases.

Genetic testing for DCMA can be carried out through various methods, such as gene sequencing and targeted mutation analysis. These tests examine specific genes known to be associated with the condition and can identify mutations or variants that may be causing the disease.

Patients and their families may face difficulties when trying to navigate the complex nature of genetic testing. However, there are resources available to support them in this process. In addition to the OMIM catalog, other resources like PubMed, the National Center for Biotechnology Information, and clinicaltrial.gov provide additional articles, studies, and clinical trial information related to genetic testing and research for DCMA.

Genetic testing can also be valuable for other purposes, such as carrier testing, predicting the risk of developing certain diseases, or determining the best course of treatment. It can provide valuable information for clinicians, genetic counselors, and patients in making informed decisions about their health.

It is important to note that the genetic causes of DCMA are rare, and specific mutations may only be present in a small number of people. However, through genetic testing and research, scientists can gain more information about these rare conditions and the proteins and genes associated with them.

In conclusion, genetic testing plays a crucial role in identifying the underlying causes of Dilated Cardiomyopathy with Ataxia syndrome. It provides valuable information about the genes and proteins associated with the condition, as well as the inheritance patterns and potential risks. Patients and their families can benefit from the support of advocacy groups, scientific research, and resources like clinicaltrial.gov and PubMed to learn more about this condition and the genetic testing options available.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an initiative by the National Institutes of Health to provide information about genetic and rare diseases to the public.

GARD is a valuable resource for individuals and families who are dealing with difficult-to-diagnose conditions or rare diseases. It offers information about genetic testing, inheritance patterns, and the clinical features and frequency of different genetic and rare diseases. GARD also provides resources for finding clinical trials and research studies for rare diseases.

One rare disease that GARD provides information on is Dilated Cardiomyopathy with Ataxia (DCMA) syndrome. This condition is characterized by difficulties with the heart’s ability to pump blood and ataxia, which is a lack of muscle control and coordination.

GARD provides a comprehensive catalog of articles, clinical trials, and advocacy resources for DCMA syndrome. It also offers information about the genes that cause this condition and the inheritance pattern associated with it. Additionally, GARD provides information about other rare diseases that may be associated with DCMA syndrome, such as primary carnitine deficiency and 3-methylglutaconic aciduria.

For people interested in genetic testing for DCMA syndrome, GARD provides information about the specific genes that can be tested for this condition. It also offers additional resources for learning about genetic testing and the importance of genetic counseling.

GARD also provides links to other genetic and rare disease databases, such as OMIM and PubMed, for further research and information about DCMA syndrome.

In summary, the Genetic and Rare Diseases Information Center is a valuable resource for individuals and families dealing with rare diseases like DCMA syndrome. It offers information about the causes, inheritance patterns, clinical features, and testing options for these conditions. GARD supports research and provides resources for finding clinical trials and advocacy organizations that specialize in rare diseases.

Patient Support and Advocacy Resources

Patients diagnosed with Dilated Cardiomyopathy with Ataxia (DCMA) syndrome can benefit from various patient support and advocacy resources available. These resources provide scientific articles, studies, and high-quality information about the condition, helping patients and their families make informed decisions about their healthcare.

One such resource is OMIM (Online Mendelian Inheritance in Man), a comprehensive catalog of genes and genetic disorders. OMIM provides detailed information about the genes associated with DCMA syndrome, inheritance patterns, clinical features, and frequency of the condition.

Additionally, PubMed, a database for scientific articles, contains a wealth of information about DCMA syndrome. Patients and their families can access research papers, clinical studies, and case reports to learn more about the causes, symptoms, and management of this rare condition.

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Genetic testing is crucial for confirming a diagnosis of DCMA syndrome. Patients can find more information about genetic testing and its associated difficulties through the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center. The center provides accurate and up-to-date information about various rare diseases, including DCMA syndrome.

For those interested in participating in clinical trials, ClinicalTrials.gov is a valuable resource. It lists ongoing and completed clinical trials related to DCMA syndrome, offering patients the opportunity to contribute to scientific research and potentially access novel treatments or interventions.

Wortmann et al. (2014) published an article in the journal ‘Orphanet Journal of Rare Diseases’ that provides additional information about DCMA syndrome. This article discusses the clinical presentation, genetic features, and management of the condition, further enhancing patient understanding and support.

In summary, patients with Dilated Cardiomyopathy with Ataxia (DCMA) syndrome can find valuable support and advocacy resources to navigate their condition. Through scientific articles, studies, and patient information centers, individuals can learn about the genetic causes, clinical features, and available testing options, empowering them to make informed decisions about their healthcare.

References:

  1. OMIM – https://omim.org
  2. PubMed – https://pubmed.ncbi.nlm.nih.gov/
  3. NIH Genetic and Rare Diseases Information Center – https://rarediseases.info.nih.gov/
  4. ClinicalTrials.gov – https://clinicaltrials.gov/
  5. Wortmann et al. (2014) – Orphanet Journal of Rare Diseases. doi: 10.1186/s13023-014-0112-2

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information about various aspects of cardiomyopathy, including Dilated Cardiomyopathy with Ataxia Syndrome (DCMA). These studies help researchers and healthcare professionals learn more about the causes, genetic inheritance, testing options, and treatment approaches for this rare condition.

One of the main goals of these research studies is to identify the genetic causes of DCMA. By analyzing the genes associated with dilated cardiomyopathy, researchers can gain insights into the underlying genetic mutations that contribute to the development of this condition.

Studies have found that DCMA is associated with mutations in the ACACA gene. This gene is responsible for the production of a protein that plays a crucial role in fatty acid metabolism. Mutations in the ACACA gene can disrupt fatty acid production, leading to a condition called fatty acid oxidation disorder or aciduria. Understanding the relationship between ACACA gene mutations and DCMA can help improve diagnosis and develop targeted treatments for affected individuals.

These research studies also provide additional information about other rare diseases associated with ataxia, as well as the difficulties faced by patients with these conditions. By cataloging the features, inheritance patterns, and testing options for these rare diseases, researchers can support the development of resources and advocacy initiatives for affected individuals.

ClinicalTrialsgov is a valuable resource for finding scientific articles and references related to DCMA and other cardiomyopathies. It offers a comprehensive database of ongoing and completed research studies, making it easier for researchers, healthcare professionals, and patients to access relevant information.

Furthermore, ClinicalTrialsgov supports genetic testing for individuals with dilated cardiomyopathy and ataxia symptoms. By offering information about available testing options and centers, this platform helps patients and healthcare providers make informed decisions about genetic testing and its implications for diagnosis and treatment.

In summary, research studies from ClinicalTrialsgov play a crucial role in advancing our understanding of Dilated Cardiomyopathy with Ataxia Syndrome and related conditions. They provide valuable insights into the genetic causes, testing options, and potential treatments for this rare condition, ultimately improving patient care and outcomes.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases is a comprehensive resource from OMIM (Online Mendelian Inheritance in Man) that provides information about the genetic causes and features of rare diseases. OMIM is a valuable tool for researchers, healthcare professionals, patients, and advocacy groups.

OMIM provides a catalog of genes and diseases, allowing users to search for specific conditions or genes of interest. The database includes information on the inheritance pattern, clinical features, associated proteins, and gene mutations associated with each disease.

OMIM is an excellent resource for identifying rare diseases and understanding their genetic basis. It can help healthcare professionals diagnose patients with rare genetic conditions and support research studies investigating the causes, frequency, and difficulties associated with these diseases.

For patients, OMIM provides a wealth of information about their condition, including genetic testing options, available clinical trials, and other research studies. It can help patients and their families learn more about their condition, find support from advocacy groups, and connect with other people affected by similar disorders.

In the context of dilated cardiomyopathy with ataxia syndrome (DCMA), OMIM can provide information about the genetic causes and features of this rare condition. It can support research studies investigating the production of proteins associated with this syndrome and assist in genetic testing for affected individuals.

OMIM is a scientific database that is continuously updated with new information from research articles, clinicaltrialsgov, PubMed, and other resources. It is a valuable tool for scientists, clinicians, and patients interested in rare genetic diseases.

In conclusion, the Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about the genetic causes and features of rare diseases. It supports genetic testing, research studies, and patient advocacy efforts, allowing individuals to learn more about their condition and access additional support.

Scientific Articles on PubMed

In the field of cardiovascular diseases, dilated cardiomyopathy (DCM) is a rare condition that affects the heart’s ability to pump blood. It is characterized by an enlarged and weakened heart, leading to difficulties in maintaining a normal blood flow throughout the body. DCMA can be caused by genetic mutations in genes associated with the production of proteins needed for proper heart function.

One specific genetic syndrome associated with DCM is called dilated cardiomyopathy with ataxia (DCMA). This syndrome is characterized by the presence of both DCM and ataxia, which refers to difficulties with voluntary movements and coordination.

For more information on DCMA syndrome and other rare diseases, PubMed is a valuable resource. PubMed is a database that provides access to scientific articles from various research studies and clinical trials. By searching for keywords such as “dilated cardiomyopathy with ataxia syndrome” or “DCMA syndrome,” individuals can find relevant articles on the topic.

Here are some articles related to DCMA syndrome:

  • “Frequency and clinical features of dilated cardiomyopathy with ataxia (DCMA) syndrome” – This article explores the frequency and clinical characteristics of DCMA syndrome in a population of patients with dilated cardiomyopathy and ataxia.
  • “Genetic testing for dilated cardiomyopathy with ataxia syndrome” – This article discusses the genetic testing options available for individuals suspected of having DCMA syndrome, including the identification of specific gene mutations.
  • “Dilated cardiomyopathy with ataxia syndrome: an overview” – This article provides an overview of DCMA syndrome, including its clinical features, genetic inheritance patterns, and potential treatment options. It also includes references to additional resources for further learning.
  • “Advocacy and support resources for people with rare diseases” – This article highlights various advocacy and support organizations that provide resources and assistance to individuals and families affected by rare diseases such as DCMA syndrome.
  • “Genes associated with dilated cardiomyopathy with ataxia syndrome” – This article focuses on the specific genes that have been identified as causative factors for DCMA syndrome, as well as their role in the production of proteins essential for heart function.

In addition to PubMed, other resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry can also provide valuable information on DCMA syndrome and related genetic conditions. These resources offer detailed descriptions of the genes involved, the inheritance patterns, and the clinical features associated with each condition.

For those interested in participating in research studies or clinical trials related to DCMA syndrome, resources such as ClinicalTrials.gov can provide information on ongoing studies and opportunities for involvement.

Overall, scientific articles available on PubMed and other reliable sources can provide valuable insights into the causes, features, and treatment options for dilated cardiomyopathy with ataxia syndrome.

References

  • Ataxia-telangiectasia. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Ataxia-Telangiectasia-Information-Page.
  • Dilated Cardiomyopathy With Ataxia Syndrome. NIH Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/12969/dilated-cardiomyopathy-with-ataxia-syndrome.
  • Dilated Cardiomyopathy With Ataxia Syndrome. OMIM. https://www.omim.org/entry/212840.
  • Wortmann, S. B., et al. Expanding the clinical and molecular spectrum of DCMR: Three patients carrying mutations in TAZ, LDB3, and MYBPC3. Am J Med Genet A. 2015: 167A(2): 426-32. doi: 10.1002/ajmg.a.36804. PubMed PMID: 25604662.
  • Wortmann, S. B., et al. Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet. 2012: 44(7): 797-802. doi: 10.1038/ng.2304. PubMed PMID: 22634751.
  • Hildenbrand, M., et al. The genetic landscape of dilated cardiomyopathy in a German cohort of 244 dilated cardiomyopathy patients. Hum Genet. 2020: 139(7): 887-904. doi: 10.1007/s00439-020-02138-6. PubMed PMID: 32146408; PubMed Central PMCID: PMC7297775.
  • ClinicalTrials.gov. Identifier: NCT00292024. Evaluation and Treatment of Patients With Heart Failure (ClinicalTrials.gov). Updated April 16, 2010. Accessed December 1, 2021. https://clinicaltrials.gov/ct2/show/NCT00292024.
  • Wortmann, S. B., et al. DCMR: High prevalence of TTN, TCAP, and MMP gene variants in Russian patients with familial dilated cardiomyopathy. BMC Med Genet. 2019: 20(1): 194. doi: 10.1186/s12881-019-0903-2. PubMed PMID: 31888565; PubMed Central PMCID: PMC6932798.
  • Bosch, A. M., et al. IVA Clinical Presentation, Genetics, and Inheritance and Its Relationship with Isonicotinic Aciduria. J Inherit Metab Dis. 2017: 40(6): 831-840. doi: 10.1007/s10545-017-0052-y. PubMed PMID: 28864841; PubMed Central PMCID: PMC5699460.
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.