166th ENMC International Workshop on Collagen type VI-related Myopathies, 22–24 May 2009, Naarden, The Netherlands
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference54 articles.
1. Autosomal recessive Bethlem myopathy;Gualandi;Neurology,2009
2. Autosomal recessive inheritance of classic Bethlem myopathy;Foley;Neuromusc Disord,2009
3. A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the [alpha]1(VI) collagen chain in an Italian family affected by Bethlem myopathy;Pepe;Biochem Biophys Res Com,1999
4. Therapy of collagen VI-related myopathies (Bethlem and Ullrich);Merlini;Neurotherapeutics,2008
5. Bethlem myopathy (Bethlem) 86th ENMC international workshop, 10–11 November 2000, Naarden, The Netherlands;Pepe;Neuromusc Disord,2002
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