Article
Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.
Archives of neurology - 1 Aug 2007
Nguyen Karine, Bassez Guillaume, Krahn Martin, Bernard Rafaelle, Laforêt Pascal, Labelle Véronique, Urtizberea Jon Andoni, Figarella-Branger Dominique, Romero Norma, Attarian Shahram, Leturcq France, Pouget Jean, Lévy Nicolas, Eymard Bruno
Abstract excerpt
OBJECTIVE: To describe the phenotypic spectrum of dysferlin (DYSF) gene mutations (which cause dysferlinopathies, autosomal recessive muscular dystrophies) in patients with a dysferlin protein deficiency. DESIGN: Clinical, biological, and pathological data from 40 patients were reviewed. The diagnosis of dysferlinopathy was based on the absence or strong reduction of dysferlin in muscle, and confirmed by...
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