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Article

Missense mutation of c.635 T > C in CAPN3 impairs muscle injury repair in a Limb-Girdel Muscular Dystropy Model.

Clinical genetics - 1 Jun 2023

Ma Hou-Shi, Gong Xiu-Li, Li Wen-Xiu, Cai Qin, Chen Yan-Wen, Guo Xin-Bing, Ren Zhao-Rui, Zeng Fanyi, Yan Jing-Bin

Abstract excerpt

Limb-girdle muscular dystrophy recessive 1 (LGMDR1), previously known as LGMD2A, is a specific LGMD caused by a gene mutation encoding the calcium-dependent neutral cysteine protease calpain-3 (CAPN3). In our study, the compound heterozygosity with two missense variants c.635 T > C (p.Leu212Pro) and c.2120A > G (p.Asp707Gly) was identified in patients with LGMDR1. However, the pathogenicity of c.635 T > C has not...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36999564
DOI: 10.1111/cge.14330

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