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Results 1 - 7 of 7 for "Ataxia," "deafness," cardiomyopathy
  1. What Is Mitochondrial Disease (Muscular Dystrophy Association) - PDF  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscular Dystrophy Association ... PDF
    https://www.mda.org/...tochondrial_Disease_Fact_Sheet_March_2020.pdf - External Health Links
  2. Kearns-Sayre Syndrome From the National Institutes of Health (National Center for Advancing Translational Sciences)  
    Eye Diseases/Specifics ... Eye Diseases ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... National Center for Advancing Translational Sciences ... From the ...
    https://rarediseases.info.nih.gov/.../6817/kearns-sayre-syndrome - External Health Links
  3. MT-TK gene 
    ... A condition characterized by a weakened heart muscle (cardiomyopathy) and hearing loss is also caused by a mutation in the MT-TK gene. Affected individuals may also have myopathy and ataxia. This mutation (written as G8363A) replaces the nucleotide ...
    https://medlineplus.gov/genetics/gene/mt-tk - Genetics
  4. MT-TL1 gene 
    The MT-TL1 gene provides instructions for making a molecule called a transfer RNA (tRNA), which is a chemical cousin of DNA. Transfer RNAs help assemble protein ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  5. Usher Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Usher Syndrome/Learn More ... Usher Syndrome ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find symptoms and other information ...
    https://rarediseases.info.nih.gov/diseases/7843/usher-syndrome - External Health Links
  6. Myoclonic epilepsy with ragged-red fibers 
    ... MERRF include recurrent seizures (epilepsy), difficulty coordinating ... as cardiomyopathy. Less commonly, people with MERRF develop fatty tumors, ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  7. Williams Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Genetic Disorders/Specifics ... Genetic Disorders ... Developmental Disabilities/Specifics ... Developmental Disabilities ... Genetic and Rare Diseases Information Center ...
    https://rarediseases.info.nih.gov/diseases/7891/williams-syndrome - External Health Links