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5
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5
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"Ataxia," "deafness," cardiomyopathy
- What Is Mitochondrial Disease (Muscular Dystrophy Association) - PDFNeuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscular Dystrophy Association ... PDF
- ... 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 ...
- Usher Syndrome (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 ...
- ... MERRF include recurrent seizures (epilepsy), difficulty coordinating ... as cardiomyopathy. Less commonly, people with MERRF develop fatty tumors, ...
- ... H, Honzik T, Zeman J, Linhart A. Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C> ...