RT Journal Article
SR Electronic
T1 Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 241
OP 243
DO 10.1136/jmg.35.3.241
VO 35
IS 3
A1 M C Vincent
A1 C Guiraud-Chaumeil
A1 J Laporte
A1 S Manouvrier-Hanu
A1 J L Mandel
YR 1998
UL http://jmg.bmj.com/content/35/3/241.abstract
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.