Article

Beware of Leigh Syndrome Pedigrees with MT-ATP6 Mutation Whose Primary Diagnosis is Retinitis Pigmentosa

2023-10-30

Abstract excerpt

<title>Abstract</title><p><bold>purpose:</bold>Maternally Inherited Leigh Syndrome (MILS) is a group of systemic diseases caused by defects in mitochondrial oxidative phosphorylation (OXPHOS). We aim to investigate the clinical and genetic characteristics of MILSpedigree with MT-ATP6 mutation who were first diagnosed with RP.<bold>Methods:</bold>This study included a family pedigree consisting of a proband with vi...

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Literature Corpus work: f5305296-f83d-5d7f-b6d0-1fbcb5583994
DOI: 10.21203/rs.3.rs-3477746/v1

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Beware of Leigh Syndrome Pedigrees with MT-ATP6 Mutation Whose Primary Diagnosis is Retinitis PigmentosaDOI 10.21203/rs.3.rs-3477746/v1Read

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