Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
Nat Genet
; 37(10): 1044-6, 2005 Oct.
Article
em En
| MEDLINE
| ID: mdl-16186812
ABSTRACT
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant recurrent neuropathy affecting the brachial plexus. HNA is triggered by environmental factors such as infection or parturition. We report three mutations in the gene septin 9 (SEPT9) in six families with HNA linked to chromosome 17q25. HNA is the first monogenetic disease caused by mutations in a gene of the septin family. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 17
/
Neurite do Plexo Braquial
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GTP Fosfo-Hidrolases
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Mutação
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Nat Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Alemanha