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Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.

A family with two male cousins affected with myotubular myopathy (MTM) was referred to us for genetic counselling. Linkage analysis appeared to exclude the Xq28 region. As a gene for X linked MTM was recently identified in Xq28, we screened the obligatory carrier mothers for mutation. We found a 4 b...

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Autors principals: Vincent, M C, Guiraud-Chaumeil, C, Laporte, J, Manouvrier-Hanu, S, Mandel, J L
Format: Artigo
Idioma:Inglês
Publicat: 1998
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051250/
https://ncbi.nlm.nih.gov/pubmed/9541111
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