Therapy of collagen VI-related myopathies (Bethlem and Ullrich)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Neurology (clinical),Pharmacology
Link
http://www.springerlink.com/index/pdf/10.1016/j.nurt.2008.08.004
Reference42 articles.
1. Bethlem J, Wijngaarden GK. Benign myopathy, with autosomal dominant inheritance: a report on three pedigrees. Brain 1976;99: 91–100.
2. Camacho Vanegas O, Bertini E, Zhang RZ, et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA 2001;98: 7516–7521.
3. Scacheri PC, Gillanders EM, Subramony SH, et al. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Neurology 2002;58: 593–602.
4. Merlini L, Martoni E, Grumati BS, et al. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology 2008 (in press).
5. Merlini L, Morandi L, Granata C, Ballestrazzi A. Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures: description of two new families. Neuromuscul Disord 1994;4: 503–511.
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