Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.
Ann Neurol
; 58(5): 800-3, 2005 Nov.
Article
em En
| MEDLINE
| ID: mdl-16240357
ABSTRACT
We present a 32-year-old Turkish male with juvenile amyotrophic lateral sclerosis 2 and a previously unrecognized homozygous deletion in exon 4 of the ALS2 gene (553delA). Disease progression is more rapid than in the ALS2 phenotype cases described to date. The patient's consanguineous parents carry the mutation in the heterozygous state as do his two unaffected brothers.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article