X-linked myotubular myopathy in a family with three adult survivors
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2003.00118.x/fullpdf
Reference10 articles.
1. Mutations in the MTM1 gene implicated in X-linked myotubular myopathy;Laporte;Hum Mol Genet,1997
2. MTM1 mutations in X-linked myotubular myopathy;Laporte;Hum Mutat,2000
3. Characterisation of mutations in fifty North American patients with X-linked myotubular myopathy;Herman;Hum Mutat,2002
4. X-linked myotubular myopathy - a long-term follow up study;Barth;Eur J Paediatr Neurol,1998
5. A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy;Donnelly;Hum Mutat,1998
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