New mutations in the X-linked form of Charcot-Marie-Tooth disease.
Eur Neurol
; 37(1): 38-42, 1997.
Article
em En
| MEDLINE
| ID: mdl-9018031
ABSTRACT
Mutations in the gene for connexin 32 are associated with a chromosome X-linked form of Charcot-Marie-Tooth disease. The prevalence of this form is probably underestimated. We screened 12 candidate families and found 7 missense mutations of which 4 are new. These mutations are located in intra- and extramembraneous parts of the protein. Some mutations are probably present with a higher frequency. This study further confirms variation of connexin 32 mutations with scarcity in the second transmembrane domain and, so far, absence in the fourth transmembrane domain and in the carboxy-terminal region.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Aberrações dos Cromossomos Sexuais
/
Cromossomo X
/
Análise Mutacional de DNA
/
Doença de Charcot-Marie-Tooth
/
Conexinas
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Eur Neurol
Ano de publicação:
1997
Tipo de documento:
Article