Yan Shi, Chunyan Cao, Yiheng Zeng, Yuanliang Ding, Long Chen, Fuze Zheng, Xuejiao Chen, Fanggui Zhou, Xiefeng Yang, Jinjing Li, Liuqing Xu, Guorong Xu, Minting Lin, Hiroyuki Ishiura, Shoji Tsuji, Ning Wang, Zhiqiang Wang, Wanjin Chen, Kang Yang
CGG repeat expansions in LOC642361/NUTM2B-AS1 have recently been identified as a cause of oculopharyngeal myopathy with leukoencephalopathy. However, since only three patients from a single family were reported, it remains unknown whether their clinicopathological features are typical for CGG repeat expansions in LOC642361/NUTM2B-AS1. Here, using repeat-primed PCR and long-read sequencing, we identify 12 individuals from 3 unrelated families with CGG repeat expansions in LOC642361/NUTM2B-AS1, typically presenting with oculopharyngodistal myopathy...
December 28, 2023: Journal of Genetics and Genomics