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, et al. J Hum Genet. 2023 Apr; 68(4):239-246. Epub 2022 Dec 8.