SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS).
Neuromuscul Disord
; 16(11): 800-4, 2006 Nov.
Article
em En
| MEDLINE
| ID: mdl-16952453
ABSTRACT
Mutations in the SOD1 gene exons and exon/intron boundaries were searched in 66 sporadic and 4 familial Italian ALS cases consecutively referred to our centre from different Italian regions. A mutation was found in three sporadic cases (4.5%) a new nonsense mutation in exon 5 (K136X) in a patient with a rapid and severe disease course and two previously described missense nucleotide substitutions (N65S and A95T) in two patients with a mild disease course. Comparison of the clinical characteristics with previously reported patients carrying the same or similar mutations showed a remarkable genotype-phenotype correlation. No association was found with intronic sequence variations by comparing their frequency in the patients and in 181 matched controls.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Superóxido Dismutase
/
Mutação de Sentido Incorreto
/
População Branca
/
Esclerose Lateral Amiotrófica
Limite:
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article