Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.
Neuromuscul Disord
; 9(3): 159-65, 1999 May.
Article
em En
| MEDLINE
| ID: mdl-10382909
ABSTRACT
Direct sequencing of the emerin gene in 22 families with Emery-Dreifuss muscular dystrophy (EMD) revealed mutations in 21 (95%), confirming that emerin mutations can be identified in the majority of families with X-linked EMD. Most emerin mutations result in absence of the protein. In this study three mutations (a missense mutation Pro183Thr and two in-frame deletions removing residues 95-99 and 236-241, respectively) were unusual in being associated with expression of mutant protein. The phenotype in these families was compared in detail with the clinical features in cases with typical null mutations. For the in-frame deletions there were no significant differences. In the family with the missense mutation the phenotype was milder. Age at onset was later for first symptoms and for development of ankle contractures and muscle weakness. These findings have diagnostic implications as well as pointing to functionally important regions of the emerin protein.
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Base de dados:
MEDLINE
Assunto principal:
Timopoietinas
/
Cromossomo X
/
Proteínas de Membrana
/
Distrofias Musculares
Idioma:
En
Ano de publicação:
1999
Tipo de documento:
Article