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

Author:

Vincent M C,Guiraud-Chaumeil C,Laporte J,Manouvrier-Hanu S,Mandel J L

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies;Wallgren-Pettersson, C.; Clarke, A.; Samson, F.,1995

2. X-linked centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci;Thomas, N.; Williams, H.; Cole, G.;JMed Genet,1990

3. X-linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28;Lehesjoki, A.E.; Sankila, E.; Miao, J.;J Med Genet,1990

4. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast;Laporte, J.; Hu, L.J.; Kretz, C.;Nat Genet,1996

5. Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers;Hu, U.; Laporte, J.; Kress, W.; Dahl, N.,1996

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