Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5-related disorders

Legro, NR; Kumar, A; Aliu, E

Legro, NR (通讯作者)，Penn State Milton S Hershey Med Ctr, Penn State Coll Med, 700 HMC Crescent Rd, Hershey, PA 17033 USA.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (3): 896

Abstract

NDUFAF5 encodes a Complex I assembly factor which is critical to the modification of a core subunit, NDUFS7, in early Complex I factor assembly. Mutat......

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