Article
Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion.
Archives of neurology - 1 Oct 2003
Krasnianski Michael, Eger Katharina, Neudecker Stephan, Jakubiczka Sibylle, Zierz Stephan
Abstract excerpt
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is associated with a deletion on chromosome 4q35. Recent studies have shown that this deletion is found in patients with other phenotypes in addition to those with the classic Landouzy-Dejerine FSHD phenotype. OBJECTIVE: To examine patients with atypical phenotypes and an FSHD deletion on chromosome 4q35. DESIGN: Clinical characterization and...
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