1.
Nat Genet
; 37(10): 1044-6, 2005 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16186812
RESUMO
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.
Assuntos
Neurite do Plexo Braquial/genética , Cromossomos Humanos Par 17/genética , GTP Fosfo-Hidrolases/genética , Mutação , Sequência de Aminoácidos , Animais , Sequência de Bases , Cães , Humanos , Camundongos , Dados de Sequência Molecular , Ratos , Septinas
2.
Adv Exp Med Biol
; 544: 97-106, 2003.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14713220