Cerebellar Bottom of Fissure Hyperintensities in MT‐ATP6‐Associated Ataxia
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Neurology"
DOI: 10.1002/ana.26311
Abstract: MT-ATP6-associated disease is caused by mutations in the mitochondrial gene MT-ATP6, encoding a subunit of the ATP synthase complex. Clinically, MT-ATP6 mutations were first associated with a syndrome combining neuropathy, ataxia, and retinitis pigmentosa (NARP… read more here.
Keywords: atp6 associated; age; age years; ataxia ... See more keywords
Genotype‐phenotype analysis of MT‐ATP6‐associated Leigh syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Acta Neurologica Scandinavica"
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