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Article

Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutation.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2017

Taieb Guillaume, Polge Anne, Juntas-Morales Raul, Pageot Nicolas, Lumbroso Serge, Mouzat Kevin, Camu William

Abstract excerpt

We report the third case of amyotrophic lateral sclerosis related to p.E121G Superoxide dismutase-1 (SOD1) mutation. Besides a sporadic presentation and a slow progressive course, as described in the 2 previously cases, our patient presented with prominent sensory and cerebellar signs. This case report strengthens that p.E121G should be considered as a causal mutation. Slowly upper and lower motor neuron...

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Source

Identifiers

PMID: 27892702
DOI: 10.1080/21678421.2016.1255756

Genes

SOD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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