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Article

Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective.

Journal of medical genetics - 1 Nov 2021

Zhong Huahua, Zheng Yiming, Zhao Zhe, Lin Pengfei, Xi Jianying, Zhu Wenhua, Lin Jie, Lu Jun, Yu Meng, Zhang Wei, Lv He, Yan Chuanzhu, Hu Jing, Wang Zhaoxia, Lu Jiahong, Zhao Chongbo, Yuan Yun, Luo Sushan

Abstract excerpt

BACKGROUND: Limb-girdle muscular dystrophy type R1 (LGMDR1) can be caused by recessive CAPN3 mutations accounting for the majority of LGMD. To date, no systemic evaluation has been performed to analyse the detrimental and normal mutations on CAPN3 and its hotspots. METHODS: CAPN3 variants (n=112) from a total of 124 patients with LGMDR1 recruited in four centres in China were retrospectively analysed. Then...

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PMID: 32994280
DOI: 10.1136/jmedgenet-2020-107159

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Source receipt: pubmed, retrieved 7 Sept 2026.

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