Article
Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness.
Neurology - 24 Sept 2002
Ishikawa H, Sugie K, Murayama K, Ito M, Minami N, Nishino I, Nonaka I
Abstract excerpt
Ullrich disease is a form of congenital muscular dystrophy characterized clinically by generalized muscle weakness, contractures of the proximal joints, and hyperflexibility of the distal joints from birth or early infancy. Recently, mutations of the collagen VI gene have been associated with Ullrich disease. The authors report on a boy with Ullrich disease who has complete deficiency of collagen VI and harbors...
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