Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: A case report

Oculopharyngodistal myopathy (OPDM; OMIM 164310) is a rare adult-onset neuromuscular disease characterized by progressive weakness in ocular, facial, bulbar and distal limb muscles [1 –3]. The myopathological features include myopathic change with rimmed vacuoles. Ultrastructural examinations of the central and peripheral nervous system tissues, skeletal muscles and skin demonstrate abundant round, eosinophilic intranuclear inclusions [1–3]. Since first acknowledgement in 197 7 [4], more than 300 individuals with OPDM have been reported worldwide [1–14].

Source: Neuromuscular Disorders - July 7, 2023 Category: Neurology Authors: Xinyu Gu, Kexin Jiao, Dongyue Yue, Xilu Wang, Kai Qiao, Mingshi Gao, Jie Lin, Chong Sun, Chongbo Zhao, Wenhua Zhu, Jianying Xi Tags: Case report Source Type: research