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Definition

A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course.

Acronym

MC5DM1

Synonyms

Adult-onset ataxia and polyneuropathy
Infantile hypertrophic cardiomyopathy
Mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1

Keywords

Primary mitochondrial disease

 
Disclaimer

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