Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency

Leigh syndrome (LS)/Leigh-like syndrome (LLS) is one of the most common mitochondrial disease subtypes, caused by mutations in either the nuclear or mitochondrial genomes. Here, we identified a novel intronic mutation (c.82-2 A > G) and a novel exonic insertion mutation (c.290dupT) in TMEM126B fr...

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Detalles Bibliográficos
Autores principales: Zhou, Xiyue, Lou, Xiaoting, Zhou, Yuwei, Xie, Yaojun, Han, Xinyu, Dong, Qiyu, Ying, Xiaojie, Laurentinah, Mahlatsi Refiloe, Zhang, Luyi, Chen, Zhehui, Li, Dongxiao, Fang, Hezhi, Lyu, Jianxin, Yang, Yanling, Wang, Ya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10040336/
https://www.ncbi.nlm.nih.gov/pubmed/36482121
http://dx.doi.org/10.1038/s10038-022-01102-4

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