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Absence of mutations in the prion-protein gene in a large cohort of HMSN patients

✍ Scribed by Olga Koop; Vincent Timmerman; Peter de Jonghe; Bernd Ringelstein; Peter Young; Gregor Kuhlenbäumer


Book ID
116792345
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
59 KB
Volume
15
Category
Article
ISSN
0960-8966

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## Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular dystrophies. Mutations in the gene encoding dysferlin (DYSF) lead to distinct phenotypes, mainly Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). Here, we analysed the mutational data fr