| CYTOCHROME b OF COMPLEX III; MTCYB | |
|
516020
OMIM = Online Mendelian Inheritance of Men | |
|
1460, 104 | |
| Cytochrome b | |
| very rare | |
| Laboratory findings | 3-Methylglutaconic acid inc (urine) Creatine kinase inc (serum) L-Carnitine dec (plasma) L-Lactic acid normal/inc (serum) L-Lactic acid inc (urine) Transaminases (ASAT/ALAT) n/i (serum) |
| Symptoms | exercise intolerance ataxia brainstem defect or changes cardiomyopathy cataract cerebellar atrophy or hypoplasia cortical or cerebral atrophy encephalopathy gastrointestinal dysmotility hearing defect, deafness hypoglycemia hypotonia MRI, brain, abnormalities [-] muscle cramps muscle weakness neuropathy ophthalmoplegia seizures strokelike episodes weight loss onset, adolescent |