Dysferlin mutations in LGMD2B, Miyoshi m
β
Karine Nguyen; Guillaume Bassez; RafaΓ«lle Bernard; Martin Krahn; VΓ©ronique Label
π
Article
π
2005
π
John Wiley and Sons
π
English
β 161 KB
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