Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related.

Zhiyong Chen,Monica Saini,Jasmine S Koh,Kalpana Prasad, Swee Hoon Koh,Karine S S Tay,Ming Lee,Yi Jayne Tan,Adeline S L Ng,Stacey Kiat Hong Tay,Kong Bing Tan,Ankit Tandon,Jeane M M Tan,Josiah Y H Chai

Journal of neuromuscular diseases（2023）

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摘要

We report the unique clinical and histological features of a Southeast Asian cohort of five patients with LGMD2G/LGMD-R7-telethonin-related muscular dystrophy and further expand its clinical and histopathological spectrum.

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关键词

LGMD2G,TCAP,Telethonin deficiency,muscular dystrophy

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