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Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.
Bürglen, L; Amiel, J; Viollet, L; Lefebvre, S; Burlet, P; Clermont, O; Raclin, V; Landrieu, P; Verloes, A; Munnich, A; Melki, J.
Afiliação
  • Bürglen L; Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM, Unité 393, Hôpital des Enfants Malades, Paris, France.
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.
Assuntos

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

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