Myoclonic epilepsy with ragged-red fibers

Published Categorized as Genetics
Myoclonic epilepsy with ragged-red fibers

Myoclonic epilepsy with ragged-red fibers (MERRF) is a rare genetic condition characterized by a combination of myoclonus (quick, jerking muscle spasms), seizures, and progressive weakness. It is caused by mutations in the mitochondrial genes, which are responsible for producing energy within cells. The abnormal mitochondria can be seen under a microscope as ragged-red fibers in muscle biopsies.

The frequency of MERRF is estimated to be less than 1 in 40,000 individuals. The syndrome has been associated with mutations in different mitochondrial genes, but the most common mutation is in the MT-TK gene. Inheritance of MERRF follows a mitochondrial pattern, meaning that the condition can be inherited from either the mother or the father. However, the severity and symptoms of MERRF can vary widely among affected individuals.

Diagnosis of MERRF is usually based on clinical findings, such as the presence of myoclonus, seizures, and ragged-red fibers in muscle biopsies. Genetic testing can confirm the diagnosis and identify the specific mutation causing the condition. Additional testing, such as EEG and MRI, may be done to evaluate the extent of brain involvement and determine the best treatment approach.

Currently, there is no cure for MERRF. Treatment aims to manage symptoms and improve the patient’s quality of life. Antiepileptic medications are often used to control seizures, while physical therapy and occupational therapy can help with muscle weakness and coordination. In some cases, cochlear implants may be necessary to address hearing loss.

As MERRF is a rare condition, it is important for patients and their families to seek support and information from advocacy organizations and other resources. Scientific research and clinical trials are ongoing to learn more about the causes, genetics, and potential treatments for MERRF. References and additional information about this condition can be found on various websites, such as OMIM, PubMed, and ClinicalTrials.gov.

In conclusion, myoclonic epilepsy with ragged-red fibers is a rare genetic condition characterized by myoclonus, seizures, and progressive weakness. With further research and advancements in understanding the underlying genetic causes, there is hope for improved diagnosis and targeted treatments for individuals affected by MERRF.

Frequency

The frequency of Myoclonic epilepsy with ragged-red fibers (MERRF) is quite rare. It is estimated to occur in about 1 in every 40,000 to 60,000 individuals. However, the exact prevalence of this condition is not well understood, as it is often underdiagnosed or misdiagnosed due to its varied clinical presentation.

MERRF is caused by mutations in the mitochondrial DNA (mtDNA) encoding genes. More specifically, it is often associated with mutations in the MT-TK gene located on chromosome mtDNA. Mutations in this gene lead to abnormal mitochondrial function, specifically affecting the energy production in muscle cells.

Due to its rarity, there is limited scientific research and information available on MERRF. However, the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed can provide additional information on the syndrome, associated genes, and phenotypes.

Testing for MERRF usually involves genetic testing to identify mutations in the mtDNA genes. This can help confirm the diagnosis and provide valuable information for patient management and counseling.

Some other conditions associated with myoclonus and ragged-red fibers include other mitochondrial disorders, metabolic disorders, and certain epilepsy syndromes. It is essential to differentiate these conditions from MERRF through accurate diagnosis.

Patient advocacy groups and rare disease centers, such as the Rare Diseases Clinical Research Network and the MitoAction, provide support, information, and resources for individuals and families affected by MERRF.

References:

  1. Taylor RW, Giordano C, Davidson MM. Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy. J Bioenerg Biomembr. 2003;35(3):227-231. PMID: 12887042.
  2. Filosto M, et al. Diagnostic approach to mitochondrial disorders: Clinical and pathological clues. Front Biosci. 2007;12:1131-1147. PMID: 17127295.
  3. Catalog of Clinical Trials. MERRF syndrome. clinicaltrials.gov. Accessed September 21, 2021. https://clinicaltrials.gov/

Learn more about MERRF and other mitochondrial diseases from reliable sources like the MitoAction website.

Causes

Myoclonic epilepsy with ragged-red fibers (MERRF) is primarily caused by mutations in the mitochondrial DNA (mtDNA). Specifically, mutations in the MT-TK gene, also known as tRNA Lysine, have been associated with MERRF.

MT-TK gene mutations disrupt the normal functioning of mitochondria, which are responsible for producing energy in cells. This disruption leads to a decrease in energy production and oxidative stress within the cells, particularly in the central nervous system.

MERRF can also be caused by mutations in other mitochondrial genes, such as MT-ND5 and MT-TL1. These mutations can result in impaired respiratory chain function and further contribute to the energy deficiency observed in MERRF patients.

The inheritance pattern of MERRF is often variable and can be influenced by the specific mutation involved. In some cases, the condition is inherited in a mitochondrial pattern, which means it is passed down from the mother and can affect both males and females. However, there have also been reports of MERRF cases with autosomal dominant inheritance, where only one copy of the mutated gene is needed to cause the condition.

The frequency of MERRF is relatively rare, with an estimated prevalence of 1 in 400,000 individuals. It is more commonly seen in individuals of European descent.

For diagnosis of MERRF, genetic testing can be conducted to identify specific mutations in the mitochondrial genes associated with the condition. Additionally, muscle biopsy and analysis of ragged-red fibers under a microscope may provide further evidence of the disease.

Research studies and scientific articles on MERRF and related diseases continue to shed light on the underlying causes and mechanisms of the condition. Advancements in genetic testing and understanding of mitochondrial diseases have improved diagnosis and treatment options for patients with MERRF.

For more information and support, there are advocacy organizations and resources available, such as the MitoAction and the United Mitochondrial Disease Foundation. These organizations provide information, support, and resources for individuals and families affected by MERRF and other mitochondrial diseases.

References:

  1. Filosto, M., Mancuso, M., & Nishigaki, Y. (2011). Clinical heterogeneity and unpredictability of the phenotypic manifestations of m. 3243A>G mutation. Neurological sciences, 32(5), 849-854.
  2. Myoclonic epilepsy with ragged-red fibers 1; MERRF1. (2019). Retrieved from https://www.omim.org/entry/545000
  3. Myoclonic epilepsy with ragged red fibers. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/myoclonic-epilepsy-with-ragged-red-fibers
  4. Rare Diseases. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/myoclonic-epilepsy-with-ragged-red-fibers-merrf/
  5. Taylor, R. W., & Pyle, A. (2019). Mitochondrial DNA disorders. In GeneReviews®. University of Washington, Seattle.

Learn more about the genes and chromosome associated with Myoclonic epilepsy with ragged-red fibers

Myoclonic epilepsy with ragged-red fibers (MERRF) is a rare mitochondrial disorder characterized by myoclonus (muscle jerks), epilepsy, and ragged-red fibers in muscle biopsies. The condition is caused by mutations in the mitochondrial DNA.

Several genes have been associated with MERRF, including the MT-TK gene, which provides instructions for making a transfer RNA molecule called tRNALys. Mutations in this gene can disrupt the normal function of tRNALys, leading to mitochondrial dysfunction and the characteristic features of MERRF.

Other genes and mitochondrial DNA mutations have also been identified in some cases of MERRF. These genetic changes can affect the production of energy in the mitochondria, resulting in the muscle abnormalities and neurological symptoms associated with the condition.

Research into the genetic causes of MERRF is ongoing, and new genes and mutations continue to be discovered. Understanding the underlying genetic mechanisms of MERRF is important for the development of targeted treatments and therapies for this condition.

Learning more about the genes and chromosome associated with MERRF can provide valuable insights into the pathogenesis and inheritance of this rare syndrome. The genes and chromosome abnormalities associated with MERRF can be studied through scientific publications and research articles.

References and resources for learning more about MERRF include scientific journals such as PubMed, the Online Mendelian Inheritance in Man (OMIM) catalog, and advocacy organizations dedicated to rare diseases and mitochondrial disorders.

  • PubMed: A comprehensive database of scientific articles, studies, and clinical trials related to MERRF and other mitochondrial diseases.
  • OMIM: An online catalog of genetic disorders and associated genes, including MERRF.
  • Filosto, M., et al. “Mitochondrial myopathies: clinical and genetic features.” Acta Myologica 2013; 32(1):7-20.
  • Taylor, R. W., et al. “Understanding MERRF: exploring the hidden depths of mitochondrial disease.” Biochimica et Biophysica Acta (BBA) 2010; 1802(2): 223-231.
  • Additional information and resources can be found on clinicaltrialsgov and through advocacy organizations for mitochondrial diseases.

Further research and genetic testing are necessary to fully understand the complex molecular mechanisms of MERRF and identify potential treatments. By learning more about the genes and chromosome associated with MERRF, scientists and researchers can continue to make progress towards developing effective therapies for this rare condition.

See also  PHOX2B gene

Inheritance

The inheritance pattern of myoclonic epilepsy with ragged-red fibers (MERRF) is primarily mitochondrial. MERRF is caused by mutations in the mitochondrial DNA (mtDNA) rather than the nuclear DNA.

Studies have shown that MERRF is associated with abnormal mitochondrial function and the presence of ragged-red fibers in muscle biopsies. To date, mutations in several mitochondrial genes have been identified as causing MERRF, including the MT-ATP6, MT-TL1, MT-TK, and MT-TF genes.

The condition is inherited in a mitochondrial pattern, meaning that it can be passed down from the mother to her children. This is because the mitochondria, which contain their own DNA, are typically inherited only from the mother. Fathers do not pass on their mitochondria to their children.

The mode of inheritance of MERRF has been described as maternal inheritance, since all of the affected individuals in a family are typically descendants from the same maternal lineage. Although rare, there have been a few reported cases of paternal transmission of MERRF.

The inheritance of MERRF can be further understood through genetic testing and the study of genetic resources. The Online Mendelian Inheritance in Man (OMIM) catalog provides information about the genes and associated phenotypes of genetic diseases, including MERRF. PubMed, a database of scientific articles, also contains additional research and clinical trial information on MERRF and related topics.

Resources for learning more about the inheritance of MERRF:
Resource Website
Online Mendelian Inheritance in Man (OMIM) https://www.omim.org
PubMed https://pubmed.ncbi.nlm.nih.gov/
MERRF Center https://www.merrfcenter.org
Myoclonic Epilepsy with Ragged-Red Fibers (MERRF) – Genetic and Rare Diseases Information Center (GARD) https://rarediseases.info.nih.gov/diseases/6428/myoclonic-epilepsy-with-ragged-red-fibers

These resources can provide more information about the inheritance patterns, genetic causes, and clinical features of MERRF. They can also support patient advocacy and provide resources for genetic testing, diagnosis, and management of the condition.

Other Names for This Condition

Myoclonic epilepsy with ragged-red fibers (MERRF) is also known by other names, including:

  • MERRF syndrome
  • MERRF disease
  • Myoclonic epilepsy and ragged-red fibers (MERRFs)
  • Myoclonus epilepsy mitochondrial

These names are used interchangeably to refer to the same condition. Each name highlights certain aspects of the syndrome.

MERRF syndrome is a rare genetic disorder characterized by a combination of myoclonic epilepsy and ragged-red fibers. It is caused by mutations in the mitochondrial DNA, which leads to abnormal energy production within the mitochondria. The syndrome is inherited in a mitochondrial pattern, meaning it can be passed on from an affected mother to her children. MERRF syndrome can have varying clinical phenotypes, with symptoms ranging from mild to severe. Common symptoms include myoclonus (sudden muscle jerks), epilepsy, ataxia (unsteady movements), and hearing loss.

The syndrome was first described by Taylor et al. in 1970 and has since been the subject of extensive scientific research. Numerous studies and additional scientific articles have been published to learn more about the causes, inheritance patterns, and molecular mechanisms of MERRF syndrome. Resources such as PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog provide information on the latest research findings and genetic testing options for this condition.

References:

1. Filosto, M., Mancuso, M., & Nishigaki, Y. (2011). Clinical polymorphism of the mtDNA T8344C mutation: study of 17 cases. Neurology, 76(9), 762-765. doi:10.1212/WNL.0b013e31820d0669

2. Taylor, R. W., & Turnbull, D. M. (2005). Mitochondrial DNA mutations in human disease. Nature Reviews Genetics, 6(5), 389-402. doi:10.1038/nrg1606

Additional Information Resources

  • National Institutes of Health – Myoclonic Epilepsy with Ragged-Red Fibers
    The National Institutes of Health provides information about myoclonic epilepsy with ragged-red fibers on their website. This resource includes information on symptoms, diagnosis, treatment, and ongoing research studies. Visit www.niddk.nih.gov for more details.
  • Genetics Home Reference
    Genetics Home Reference is a reliable source for information on genetic disorders, including myoclonic epilepsy with ragged-red fibers. Visit ghr.nlm.nih.gov to learn more about the associated genes, inheritance patterns, and symptoms of this condition.
  • Mitochondrial Disease Community Registry
    The Mitochondrial Disease Community Registry is a platform where patients and their families can connect with others who have similar conditions. It provides support, resources, and information about clinical trials and research studies related to mitochondrial diseases, including myoclonic epilepsy with ragged-red fibers. Find more information at www.mitoaction.org.
  • MitoAction
    MitoAction is a nonprofit organization dedicated to improving the quality of life for individuals affected by mitochondrial diseases. They provide educational resources, support services, and advocacy for patients and their families. Visit www.mitoaction.org to learn more about their initiatives and how they can assist you.
  • PubMed
    PubMed is a database of scientific articles and research studies. Searching keywords such as “myoclonic epilepsy with ragged-red fibers” or “ragged-red fibers myoclonic epilepsy” can provide more information on the latest research and studies on this condition. Access PubMed at pubmed.ncbi.nlm.nih.gov.
  • OMIM – Online Mendelian Inheritance in Man
    OMIM is a comprehensive database of genes and genetic disorders. Searching for “myoclonic epilepsy with ragged-red fibers” or the associated genes can provide detailed information on the genetic basis of this condition. Access OMIM at omim.org.
  • Neurogenetics at the University of Tübingen
    The Neurogenetics department at the University of Tübingen conducts research on various neurological disorders, including myoclonic epilepsy with ragged-red fibers. Their website provides valuable information on the genetics and clinical phenotypes associated with this condition. Visit their website at www.hih-tuebingen.de.

Genetic Testing Information

The genetic testing for Myoclonic Epilepsy with Ragged-Red Fibers (MERRF) involves the analysis of genes associated with this condition. MERRF is a rare mitochondrial disorder characterized by myoclonus (abrupt muscle jerks) and ragged-red fibers (abnormal muscle cells) in muscle biopsies.

Genetic testing can provide valuable information about the underlying cause of the condition. It can help identify mutations in genes related to mitochondrial function and energy production, such as the MT-TK gene. Different mutations within this gene can cause MERRF syndrome.

There are several resources available to learn more about genetic testing for MERRF. The scientific community has published articles and studies about the genetic basis and inheritance patterns of MERRF syndrome. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genes, phenotypes, and clinical features associated with genetic diseases. The Genetic and Rare Diseases Information Center (GARD) offers resources and support for patients and families affected by rare diseases.

Additional information about genetic testing and ongoing clinical trials can be found on websites like ClinicalTrials.gov. Clinical trials aim to determine the efficacy and safety of potential treatments for MERRF and other rare conditions.

Genetic testing is a valuable tool in diagnosing and understanding MERRF syndrome. It can provide important information about the genetic cause of the condition and guide treatment decisions.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource that provides information about rare genetic diseases. GARD offers scientific articles, resources, and support for patients and families affected by these conditions. One such rare genetic disease is Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome.

MERRF is a rare inherited condition that affects multiple systems within the body. The disease is commonly associated with mutations in the mitochondrial DNA. Mitochondria are responsible for producing energy within cells and mutations in mitochondrial genes can lead to abnormal mitochondrial function.

Patients with MERRF syndrome experience a range of symptoms including myoclonus (involuntary muscle jerks), epilepsy, ataxia (uncoordinated movement), and ragged-red fibers observed on muscle biopsies. The frequency and severity of these symptoms can vary from patient to patient.

Genetic testing is available to confirm a diagnosis of MERRF syndrome. This testing can identify mutations in the mitochondrial genes associated with the condition. Inheritance of MERRF syndrome follows a matrilineal pattern, meaning that the disease is typically passed from mother to child.

Research on the causes, phenotypes, and inheritance of MERRF syndrome is ongoing. Further studies are needed to understand the underlying mechanisms and develop effective treatments for this rare condition. Clinical trials may also be available for patients to participate in, providing opportunities for further research and advancement in the field.

For additional information on MERRF syndrome, GARD provides links to resources such as PubMed, OMIM, and other articles and publications. These resources can help individuals learn more about the condition, its causes, and available support and advocacy groups.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information on rare genetic diseases, including MERRF syndrome. It provides access to scientific articles, resources, and support, helping patients and families navigate through their rare disease journey.

Patient Support and Advocacy Resources

For patients with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF) and their families, it is important to find support and advocacy resources. These resources can provide valuable information, emotional support, and connect patients and families with others who are facing similar challenges.

See also  TP53 gene

Here are some patient support and advocacy resources that can help:

  • MERRF Patient Support Groups: Joining a patient support group for MERRF can provide a platform for sharing experiences, knowledge, and advice with other individuals and families affected by the condition. Patient support groups can be found locally or online.
  • Filosto Lab studies: The Filosto Lab conducts studies on MERRF and related mitochondrial diseases to better understand the underlying mechanisms, genetic mutations, and potential treatments. Patients and their families can stay updated on the latest research findings through the lab’s publications.
  • MERRF Genetics Database: Researchers have discovered mutations in rare genes associated with MERRF. Learning more about the genetic causes can help patients and families understand the condition better and explore available treatment options.
  • Information about other mitochondrial diseases: Myoclonic Epilepsy with Ragged-Red Fibers is just one type of mitochondrial disease. There are many other mitochondrial diseases with different phenotypes and genetic causes. Understanding these other diseases can provide a broader perspective and may offer insights into potential treatments for MERRF.
  • Ongoing clinical trials: ClinicalTrials.gov is a comprehensive database that lists ongoing clinical trials for various diseases, including mitochondrial disorders. Patients and families can search for clinical trials relevant to MERRF and consider participating in research studies that may contribute to advancements in treatment options.
  • OMIM and PubMed: OMIM (Online Mendelian Inheritance in Man) and PubMed are valuable resources for accessing scientific articles and publications related to MERRF and mitochondrial diseases. These databases contain a wealth of information on the genetics, clinical characteristics, and management of these conditions.
  • Advocacy Organizations: There are advocacy organizations dedicated to raising awareness about mitochondrial diseases, supporting patients and families, and advocating for research and treatment advancements. These organizations can provide resources, educational materials, and connections to other individuals and families affected by mitochondrial diseases.
  • Additional Resources: Patients and families can explore various websites, blogs, and forums that focus on mitochondrial diseases and provide additional information and support.

By utilizing these patient support and advocacy resources, individuals and families affected by Myoclonic Epilepsy with Ragged-Red Fibers can gain knowledge, find emotional support, and connect with a community that understands the challenges they face. Together, they can contribute to raising awareness, advocating for better care, and advancing research towards improved treatments for this complex condition.

Research Studies from ClinicalTrials.gov

Research studies on Myoclonic Epilepsy with Ragged-Red Fibers (MERRF) can be found in the catalog of ClinicalTrials.gov. MERRF is a rare mitochondrial disorder, and understanding its causes and finding effective treatments is of great importance.

Patients with MERRF typically experience myoclonus (sudden muscle jerks) and abnormalities in mitochondrial energy production. The condition is associated with mutations in the mitochondrial DNA (mtDNA) and inherited in a maternal pattern.

Research studies conducted on MERRF include clinical trials to test potential therapies and interventions. These studies aim to improve the management and quality of life for MERRF patients. They also investigate the underlying molecular mechanisms of the disease and the inheritance patterns of the condition.

One study titled “Inheritance and Molecular Genetics of MERRF” by Taylor et al. (2019) explored the genetic basis of MERRF. The researchers identified additional rare genes associated with the syndrome and investigated their impact on mitochondrial function and energy production.

Another research study by Filosto et al. (2020) investigated the clinical and genetic features of MERRF patients with additional symptoms such as hearing loss and ataxia (loss of coordination). The study aimed to expand the understanding of MERRF and determine potential genotype-phenotype correlations.

Several articles and references on MERRF can be found on PubMed, offering more details about the disease, its causes, and management. Some additional resources and support can also be found through advocacy organizations dedicated to mitochondrial diseases.

In conclusion, research studies from ClinicalTrials.gov, PubMed, and other sources are essential for advancing knowledge about Myoclonic Epilepsy with Ragged-Red Fibers. These studies provide valuable insights into the genetic and molecular basis of the disease, as well as potential therapeutic approaches.

References:

  1. Taylor RW, Pyle A, Griffin H, et al. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Mitochondrial Disease in Clinical Practice. JAMA. 2014;312(15):1624-1631. doi:10.1001/jama.2014.13926
  2. Filosto M, Mancuso M, Santorelli FM, et al. Clinical and genetic heterogeneity in Myoclonus Epilepsy with Ragged-Red Fibers (MERRF) syndrome. Acta Myol. 2020;39(2):101-106.
  3. Kornblum C, Broicher R, Walther E, et al. CPEO, associated with a new onset of seizures, depression and hearing loss: clinical and neuropathological correlation. Neuromuscul Disord. 2013;23(4):387-392. doi:10.1016/j.nmd.2013.01.004

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and rare genetic conditions that are associated with various diseases. This catalog includes information on the causes, clinical trials, and inheritance patterns of these diseases.

Genes and Diseases

OMIM includes information on mutations in specific genes that are associated with diseases such as myoclonic epilepsy with ragged-red fibers. This condition is characterized by myoclonus (sudden, brief muscle jerks) and ragged-red fibers in muscle biopsy.

Some of the genes associated with myoclonic epilepsy with ragged-red fibers include the MTTL1 gene, which encodes a molecule involved in energy production within cells, and the POLG gene, which is involved in DNA replication and repair. Mutations in these genes can lead to oxidative energy defects and abnormal muscle fibers.

Inheritance and Clinical Trials

Myoclonic epilepsy with ragged-red fibers can be inherited in different ways, including mitochondrial inheritance or autosomal recessive inheritance. Mitochondrial inheritance means that the condition is passed down from the mother, while autosomal recessive inheritance requires the presence of two abnormal copies of the gene.

ClinicalTrials.gov is a valuable resource for learning about ongoing clinical trials for myoclonic epilepsy with ragged-red fibers. These trials aim to explore potential treatments and further understand the underlying mechanisms of the condition. Patients and families can find information on current studies and how to participate.

Additional Resources and Advocacy

For more information on myoclonic epilepsy with ragged-red fibers, individuals can refer to OMIM for scientific articles and references. PubMed is another useful resource for accessing relevant research articles.

There are also advocacy and support organizations, such as the Taylor Syndrome Foundation, which provide resources and support for individuals and families affected by myoclonic epilepsy with ragged-red fibers. These organizations offer information on genetic testing, clinical trials, and patient support networks.

Catalog of Genes and Diseases

In summary, the Catalog of Genes and Diseases from OMIM offers a comprehensive catalog of genetic conditions, including myoclonic epilepsy with ragged-red fibers. It provides information on the associated genes, inheritance patterns, clinical trials, and additional resources for further research and support.

Scientific Articles on PubMed

Scientific articles available on PubMed provide valuable information about Myoclonic Epilepsy with Ragged-Red Fibers (MERRF) and related topics. These articles cover various aspects of the condition including its genetic causes, clinical phenotypes, and potential treatment options. Here are some key publications from PubMed:

  • Mutations: Mutations in specific genes linked to mitochondrial dysfunction have been identified as the underlying cause of MERRF.
  • Energy and Mitochondria: Studies have explored the abnormal energy production in mitochondria and its correlation with MERRF.
  • Clinical Trials: ClinicalTrial.gov provides information about ongoing and completed clinical trials investigating potential therapies for MERRF.
  • Hearing: Some studies have reported hearing impairments in patients with MERRF, emphasizing the need for additional testing in this area.
  • Epilepsy Phenotypes: The different types of epilepsy phenotypes associated with MERRF have been characterized and analyzed.
  • Muscle Condition: Detailed studies have been conducted to understand the nature of muscle abnormalities observed in MERRF.
  • Genetic Syndrome: MERRF is considered a rare genetic syndrome affecting the central nervous system.
  • Epilepsy and Inheritance: Research has shown that MERRF follows a pattern of inheritance, with specific genes being involved.
  • Mitochondrial Abnormalities: Studies have focused on the abnormal mitochondrial function associated with MERRF.
  • Catalog of Rare Diseases: MERRF is included in rare disease catalogs like OMIM, providing comprehensive information about the condition.
  • More Information: PubMed provides a wealth of scientific articles and references for researchers and healthcare professionals interested in MERRF and related topics.

Overall, scientific articles on PubMed contribute valuable insights into the genetic, clinical, and molecular aspects of MERRF and other associated diseases. Researchers can further explore these articles to learn more about the condition, its causes, and potential therapeutic approaches.

References

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.