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Article

Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family.

The journal of gene medicine - 1 Nov 2020

Li Liangshan, Jing Zhongcui, Cheng Lei, Liu Wenmiao, Wang Haiyan, Xu Yinglei, Zheng Xueping, Yu Xiaoling, Liu Shiguo

Abstract excerpt

BACKGROUND: The dysferlin gene or the DYSF gene encodes the Ca2+ -dependent phospholipid-binding protein dysferlin, which belongs to the ferlin family and is associated with muscle membrane regeneration and repair. Variants in the DYSF gene are responsible for limb-girdle muscular dystrophy type 2B (LGMD2B), also called limb-girdle muscular dystrophy recessive 2 (LGMDR2), a rare subtype of muscular dystrophy...

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PMID: 32889728
DOI: 10.1002/jgm.3272

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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