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

Abstract

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 bp deletion in exon 4 of the MTM1 gene, which originated from the grandfather of the affected children and which was transmitted to three daughters. This illustrates the importance of mutation detection to avoid pitfalls in linkage analysis that may be caused by such cases of germinal mosaicism.

1 Figure or Table

Statistics

05001000'98'00'02'04'06'08'10'12'14'16
Citations per Year

595 Citations

Semantic Scholar estimates that this publication has 595 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Vincent1998ExtensiveGM, title={Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.}, author={Marie C Vincent and Christophe Guiraud-Chaumeil and J Laporte and Sylvie Manouvrier-Hanu and J. L. Mandel}, journal={Journal of medical genetics}, year={1998}, volume={35 3}, pages={241-3} }