Article
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Annals of neurology - 1 Oct 2007
Baker Naomi L, Mörgelin Matthias, Pace Rishika A, Peat Rachel A, Adams Naomi E, Gardner R J McKinlay, Rowland Lewis P, Miller Geoffrey, De Jonghe Peter, Ceulemans Berten, Hannibal Mark C, Edwards Matthew, Thompson Elizabeth M, Jacobson Richard, Quinlivan Ros C M, Aftimos Salim, Kornberg Andrew J, North Kathryn N, Bateman John F, Lamandé Shireen R
Abstract excerpt
OBJECTIVE: Dominant mutations in the three collagen VI genes cause Bethlem myopathy, a disorder characterized by proximal muscle weakness and commonly contractures of the fingers, wrists, and ankles. Although more than 20 different dominant mutations have been identified in Bethlem myopathy patients, the biosynthetic consequences of only a subset of these have been studied, and in many cases, the pathogenic...
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