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Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy

✍ Scribed by Sun Shunchang; Qishi Fan; Wu Huacheng; France Leturcq; Song Yongjian; Zhang Bingfeng; Yu Wen; Nathalie Deburgrave


Book ID
116368971
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
253 KB
Volume
108
Category
Article
ISSN
0303-8467

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DYSF encoding dysferlin is mutated in Miyoshi myopathy and Limb-Girdle Muscular Dystrophy type 2B, the two main phenotypes recognized in dysferlinopathies. Dysferlin deficiency in muscle is the most relevant feature for the diagnosis of dysferlinopathy and prompts the search for mutations in DYSF. D