Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.
J Med Genet
; 35(3): 241-3, 1998 Mar.
Article
em En
| MEDLINE
| ID: mdl-9541111
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Heterogeneidade Genética
/
Ligação Genética
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Mosaicismo
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Hipotonia Muscular
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
J Med Genet
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
França