Article
[Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)].
Rinsho shinkeigaku = Clinical neurology - 1 Nov 2005
Higuchi Itsuro
Abstract excerpt
Collagenopathies with collagen VI mutations include Ullrich congenital muscular dystrophy (Ullrich's disease) and Bethlem myopathy. Patients with Ullrich's disease have generalized muscle weakness, multiple contractures of the proximal joints and hyperextensibility of the distal joints. Bethlem myopathy is characterized by the combination of proximal muscle weakness and contractures of finger, elbow, and ankle...
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