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Modifier locus of the skeletal muscle involvement in Emery–Dreifuss muscular dystrophy

✍ Scribed by B. Granger; L. Gueneau; V. Drouin-Garraud; V. Pedergnana; F. Gagnon; R. Ben Yaou; S. Tezenas du Montcel; G. Bonne


Publisher
Springer
Year
2010
Tongue
English
Weight
360 KB
Volume
129
Category
Article
ISSN
0340-6717

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Facioscapulohumeral muscular dystrophy (FSHD) is a relatively common autosomal dominant neuromuscular disorder. The gene for FSHD has recently been assigned to chromosome 4q35. Although abnormal mitochondrial and biochemical changes have been observed in FSHD, the molecular defect is unknown. In add