Disease Associations |
Mitochondrial complex V deficiency, mitochondrial 2 (MC5DM2) [MIM:516070]: 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. {ECO:0000269PubMed:19188198}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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