succinate CoQ reductase deficiency (complex 2 mitochondrial respiratory chain deficiency)
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Epidemiology
rare
Pathology
- defects of oxidative phosphorylation
Genetics
- associated with defects in SDHA
Clinical manifestations
- heterogeneous clinical symptoms ranging from isolated organ dysfunction to multisystem disorder
- mitochondrial encephalomyopathy
- leukodystrophy
- late-onset optic atrophy & ataxia
- myopathy with exercise intolerance
- isolated cardiomyopathy