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Article

Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation.

Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Jan 2010

Lopate Glenn, Baloh Robert H, Al-Lozi Muhammad T, Miller Timothy M, Fernandes Filho J Americo, Ni Oliver, Leston Alison, Florence Julaine, Schierbecker Jeanine, Allred Peggy

Abstract excerpt

We describe a large family with amyotrophic lateral sclerosis (ALS) caused by an I113T mutation in superoxide dismuatse type 1 (SOD1). The proband developed symptoms typical for ALS at age 39 years and is still walking five years later. Marked phenotypic variability is manifested by her mother wi...

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Source

Identifiers

PMID: 20184521
DOI: 10.3109/17482960902898069

Genes

SOD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20184521-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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