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Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center.

Neurogenetics - 1 Jan 2022

Huang Kun, Li Qiu-Xiang, Duan Hui-Qian, Luo Yue-Bei, Bi Fang-Fang, Yang Huan

Abstract excerpt

Limb-girdle muscular dystrophy (LGMD) is a group of clinically and genetically heterogeneous neuromuscular disorders. LGMD-R7, which is caused by telethonin gene (TCAP) mutations, is one of the rarest forms of LGMD, and only a small number of LGMD-R7 cases have been described and mostly include patients from Brazil. A total of two LGMD-R7 patients were enrolled at a Chinese neuromuscular center. Demographic and...

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PMID: 34982307
DOI: 10.1007/s10048-021-00681-2

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