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Article

Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A.

Muscle & nerve - 1 Nov 2012

Luo Su-Shan, Xi Jian-Ying, Zhu Wen-Hua, Zhao Chong-Bo, Lu Jia-Hong, Lin Jie, Wang Yin, Lu Jun, Qiao Kai

Abstract excerpt

INTRODUCTION: Previous studies of limb-girdle muscular dystrophy type 2A (LGMD2A) patients in many countries have suggested a heterogeneous genetic and clinical spectrum, but the genotypes and phenotypes of Chinese LGMD2A patients remain unclear. METHODS: We directly screened calpain-3 (CAPN3) in 18 Chinese Han subjects who exhibited severely reduced or completely absent calpain-3 expression, as determined by...

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Source

Identifiers

PMID: 22926650
DOI: 10.1002/mus.23381

Genes

CAPN3

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

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Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A.PMID 22926650Read ↗

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