CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy.
Shi Y, Cao C, Zeng Y, Ding Y, Chen L, Zheng F, Chen X, Zhou F, Yang X, Li J, Xu L, Xu G, Lin M, Ishiura H, Tsuji S, Wang N, Wang Z, Chen WJ, Yang K.
Shi Y, et al.
J Genet Genomics. 2024 Feb;51(2):184-196. doi: 10.1016/j.jgg.2023.12.009. Epub 2023 Dec 29.
J Genet Genomics. 2024.
PMID: 38159879