MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases
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DOI: 10.1002/humu.23723
Abstract: Mitochondrial complex V (CV) generates cellular energy as adenosine triphosphate (ATP). Mitochondrial disease caused by the m.8993T>G pathogenic variant in the CV subunit gene MT‐ATP6 was among the first described human mitochondrial DNA diseases. Due… read more here.
Keywords: atp6 mitochondrial; biochemical features; atp6 variants; mitochondrial disease ... See more keywords