translocase of inner mitochondrial membrane domain containing 1
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Covered on Genetics Home Reference:
From NCBI Gene:
- MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31
Mitochondrial complex I deficiency, nuclear type 31 (MC1DN31): A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN31 transmission pattern is consistent with autosomal recessive inheritance. [MIM:618251]