A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report

Wen, Y; Lu, GY; Qiao, LN; Li, YF

Qiao, LN; Li, YF (通讯作者)，Sichuan Univ, West China Univ Hosp 2, Dept Pediat, 20,3rd Sect,South Renmin Rd, Chengdu 610041, Peoples R China.

MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (1):

Abstract

Background: The NADH:ubiquinone oxidoreductase complex assembly factor gene (NDUFAF5) has been linked to the occurrence of Leigh syndrome, but few cau......

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