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Article

Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2022

An Ran, Chen Huijiao, Gu Weiyue, Xu Yanming, He Chengqi

Abstract excerpt

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...

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PMID: 35314910
DOI: 10.1007/s10072-022-06005-y

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