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Article

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.

Annals of neurology - 1 Dec 2011

Al-Saif Amr, Al-Mohanna Futwan, Bohlega Saeed

Abstract excerpt

OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of motor neurons in the brain and spinal cord, leading to muscle weakness and eventually death from respiratory failure. ALS is familial in about 10% of cases, with SOD1 mutations accounting for 20% of familial cases. Here we describe a consanguineous family segregating juvenile ALS in an autosomal recessive...

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Source

Identifiers

PMID: 21842496
DOI: 10.1002/ana.22534

Genes

SIGMAR1
SOD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.PMID 21842496Read ↗

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