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- Title
Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China.
- Authors
An, Ran; Chen, Huijiao; Gu, Weiyue; Xu, Yanming; He, Chengqi
- Abstract
Oculopharyngodistal myopathy (OPDM) is a rare adult-onset hereditary muscular disease characterized by slowly progressive ptosis, external ophthalmoplegia and weakness of the facial, pharyngeal and distal limb muscles. Recently, CGG repeat expansion mutations in three genes, LRP12, GIPC1 and NOTCH2NLC, have been identified as causative factors for OPDM. Here, we report clinicopathologically typical familial OPDM patients from southwestern China. CGG repeat expansions in GIPC1 were detected in two OPDM-affected individuals. Our study was the first GIPC1-OPDM report from southwestern China, further confirming expanded GGC repeats in GIPC1 as the cause of OPDM.
- Subjects
CHINA; MUSCLE diseases; GENETIC disorders; EYE paralysis; BLEPHAROPTOSIS; GENETIC mutation; SPINOCEREBELLAR ataxia
- Publication
Neurological Sciences, 2022, Vol 43, Issue 6, p3989
- ISSN
1590-1874
- Publication type
Article
- DOI
10.1007/s10072-022-06005-y