Genotype‐phenotype analysis of MT‐ATP6‐associated Leigh syndrome
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DOI: 10.1111/ane.13566
Abstract: Mitochondrial DNA (mtDNA)‐associated Leigh syndrome (LS) is characterized by maternal inheritance, and the heteroplasmic mutant load of mtDNA pathogenic variants is known to affect clinical phenotypes. Among mtDNA pathogenic variants, variants of the MT‐ATP6 gene… read more here.
Keywords: phenotype analysis; leigh syndrome; associated leigh; atp6 associated ... See more keywords