Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.
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ABSTRACT:
SUBMITTER: Vincent MC
PROVIDER: S-EPMC1051250 | biostudies-other | 1998 Mar
REPOSITORIES: biostudies-other
Publications
Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.
Vincent M C MC Guiraud-Chaumeil C C Laporte J J Manouvrier-Hanu S S Mandel J L JL
Journal of medical genetics 19980301 3
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 detectio ...[more]
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