Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.
J Clin Invest
; 98(5): 1130-2, 1996 Sep 01.
Article
em En
| MEDLINE
| ID: mdl-8787675
ABSTRACT
The survival motor neuron (SMN) gene was lacking in 6/12 patients with arthrogryposis multiplex congenita (AMC) associated with spinal muscular atrophy (SMA). Neither point mutation in the SMN gene nor evidence for linkage to chromosome 5q13 were found in the other patients. Hitherto, arthrogryposis was regarded as an exclusion criterion in SMA. Our data strongly suggest that AMC of neurogenic origin is genetically heterogeneous, with a subgroup being allelic to SMA. Absence or interruption of the SMN gene in the AMC-SMA association will make the diagnosis easier and genetic counselling will now become feasible.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Artrogripose
/
Atrofias Musculares Espinais da Infância
/
Deleção de Genes
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Etiology_studies
/
Risk_factors_studies
Limite:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Revista:
J Clin Invest
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
França