PT  - JOURNAL ARTICLE
AU  - M C Vincent
AU  - C Guiraud-Chaumeil
AU  - J Laporte
AU  - S Manouvrier-Hanu
AU  - J L Mandel
TI  - Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.
AID  - 10.1136/jmg.35.3.241
DP  - 1998 Mar 01
TA  - Journal of Medical Genetics
PG  - 241--243
VI  - 35
IP  - 3
4099  - http://jmg.bmj.com/content/35/3/241.short
4100  - http://jmg.bmj.com/content/35/3/241.full
SO  - J Med Genet1998 Mar 01; 35
AB  - 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.