Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family.

Abstract:

:We describe a French amyotrophic lateral sclerosis (ALS) family with two distinct mutations in the Cu/Zn superoxide dismutase (SOD1) gene. The D90A mutation has been well described and clearly shown to cause recessive ALS. In this family, affected individuals are heterozygous for the D90A mutation and also carry a single copy of a novel SOD1 mutation, D96N. We propose that in this family both mutations are required for the development of disease.

journal_name

Ann Neurol

journal_title

Annals of neurology

authors

Hand CK,Mayeux-Portas V,Khoris J,Briolotti V,Clavelou P,Camu W,Rouleau GA

doi

10.1002/1531-8249(20010201)49:2<267::aid-ana51>3.0

keywords:

subject

Has Abstract

pub_date

2001-02-01 00:00:00

pages

267-71

issue

2

eissn

0364-5134

issn

1531-8249

journal_volume

49

pub_type

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