Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity - Archive ouverte HAL Access content directly
Journal Articles Journal of Medical Genetics Year : 1998

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.

Dates and versions

hal-04027647 , version 1 (13-03-2023)

Identifiers

Cite

M. C. Vincent, C. Guiraud-Chaumeil, Jocelyn Laporte, S. Manouvrier-Hanu, Jean-Louis Mandel. Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity. Journal of Medical Genetics, 1998, 35 (3), pp.241-243. ⟨10.1136/jmg.35.3.241⟩. ⟨hal-04027647⟩
2 View
0 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More