Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency.
Zhou X, Lou X, Zhou Y, Xie Y, Han X, Dong Q, Ying X, Laurentinah MR, Zhang L, Chen Z, Li D, Fang H, Lyu J, Yang Y, Wang Y.
Zhou X, et al. Among authors: zhang l.
J Hum Genet. 2023 Apr;68(4):239-246. doi: 10.1038/s10038-022-01102-4. Epub 2022 Dec 8.
J Hum Genet. 2023.
PMID: 36482121
Free PMC article.