Clinical summary of six patients with isolated complex II deficiency not showing SDHA mutations
| Patient | Age of onset | Family history | Clinical symptoms | Complex II activity (% lower normal range) | ||||
|---|---|---|---|---|---|---|---|---|
| m, months; y, years. | ||||||||
| AJ (female) | Early infancy | Sporadic | Severe muscular hypotonia | 50% | ||||
| LS (female) | 5 m | Sporadic | Muscular hypotonia, psychomotor retardation | 60% | ||||
| MC (female) | 1 y | Sporadic | Typical Leigh syndrome, hypertrophic cardiomyopathy | 25% | ||||
| MR (male) | Early infancy | Sporadic | Severe muscular hypotonia, psychomotor retardation | 30% | ||||
| TS (male) | 3 m | Affected sibling, consanguineous parents | Muscular hypotonia, respiratory insufficiency, psychomotor retardation, epilepsy | 40% | ||||
| BR (male) | 3 y | Sporadic | Ataxia, neuropathy | 60% | ||||