Multi-generational mitochondrial complex V deficiency due to the recurrent ATP5F1A c.620G>A (p.Arg207His) pathogenic variant: A novel family and a review of the literature
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ATP5F1A encodes part of the catalytic core of mitochondrial complex V, which is responsible for the majority of ATP production. Mitochondrial complex V deficiency, nuclear type 4A (MC5DN4A; MIM#620358) is due to monoallelic pathogenic variants in ATP5F1A. MC5D... ...
