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Article

Respiratory onset in an ALS family with L144F SOD1 mutation.

Journal of neurology, neurosurgery, and psychiatry - 1 Jul 2011

Corcia P, Petiot P, Stevic Z, Vourc'h P, Morales R, Gordon P H, Pageot N, Andres C, Camu W

Abstract excerpt

Familial amyotrophic lateral sclerosis (FALS) cases linked to SOD1 mutations may sometimes present with unusual clinical features such as pure lower motor neuron involvement or sensory signs. The authors describe a FALS pedigree with the L144F SOD1 mutation in which all cases had respiratory involvement as a first symptom. Although atypical clinical features are not rare in ALS families, this is the first...

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Source

Identifiers

PMID: 20562451
DOI: 10.1136/jnnp.2009.197558

Genes

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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