Article
A refined diagnostic algorithm for Bethlem myopathy.
Neurology - 1 Apr 2008
Hicks D, Lampe A K, Barresi R, Charlton R, Fiorillo C, Bonnemann C G, Hudson J, Sutton R, Lochmüller H, Straub V, Bushby K
Abstract excerpt
OBJECTIVE: Mutations in COL6A1, COL6A2, and COL6A3, the genes that encode the extracellular matrix component collagen VI, lead to Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). Unlike UCMD, BM is difficult to diagnose because of its clinical overlap with other contractural phenotypes and the lack of sensitivity of standard muscle biopsy immunohistochemical diagnostic techniques. METHODS:...
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