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[Dysferlin deficiency: the cause of limb-girdle muscular dystrophy 2B and Miyoshi myopathy in a Chinese pedigree].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2004

Sun Shunchang, Fan Qishi, Wu Huacheng, Leturcq France, Zhang Bingfeng, Yu Wen, Deburgrave Nathalie, Liu Ming, Song Yongjian

Abstract excerpt

OBJECTIVE: To identify an inbred Chinese pedigree with autosomal recessive muscular dystrophy and analyze the molecular defects. METHODS: Linkage analysis was conducted using short tandem repeat(STR) markers from the regions associated with limb-girdle muscular dystrophy type 2A(LGMD2A) through 2H. Multi-Western blot was performed with anti-calpain-3, anti-dysferlin, anti-gamma-sarcoglycan,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15079794

Genes

DYSF

Provenance

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[Dysferlin deficiency: the cause of limb-girdle muscular dystrophy 2B and Miyoshi myopathy in a Chinese pedigree].PMID 15079794Read ↗

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