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Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy

โœ Scribed by Illarioshkin, S. N.; Ivanova-Smolenskaya, I. A.; Greenberg, C. R.; Nylen, E.; Sukhorukov, V. S.; Poleshchuk, V. V.; Markova, E. D.; Wrogemann, K.


Book ID
111921474
Publisher
Lippincott Williams and Wilkins
Year
2000
Tongue
English
Weight
395 KB
Volume
55
Category
Article
ISSN
0028-3878

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Splicing mutation in dysferlin produces
โœ McNally, Elizabeth M.; Ly, Chantal T.; Rosenmann, Hanna; Mitrani Rosenbaum, Stel ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 56 KB ๐Ÿ‘ 1 views

Mutations in dysferlin were recently described in patients with Miyoshi myopathy, a disorder that preferentially affects the distal musculature, and in patients with Limb-Girdle Muscular Dystrophy 2B, a disorder that affects the proximal musculature. Despite the phenotypic differences, the types of