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P3.60 Pompe disease in persons with unclassified Limb-girdle muscular dystrophy

โœ Scribed by E.H. Husu; N. Preisler; K. Madsen; R. Hansen; Z. Lukacs; M. Laub; M. Dunoe; H. Andersen; L. Vinge; J. Vissing


Book ID
116795136
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
58 KB
Volume
21
Category
Article
ISSN
0960-8966

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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