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Article

[Familial amyotrophic lateral sclerosis (FALS) with a novel SOD1 gene mutation: a clinicopathological study].

Rinsho shinkeigaku = Clinical neurology - 1 May 2007

Kawamata Chizuru, Morita Mitsuya, Shibata Noriyuki, Nakano Imaharu

Abstract excerpt

We describe a patient with familial amyotrophic lateral sclerosis (FALS) in whom we identified a substitution of G for CGTTTA at codon 144 in the Cu/Zn superoxide dismutase 1 (SOD1) gene, causing amino acid changes from leucine to phenylalanine, valine and a stop codon (L144FVX). This mutation is novel, and so we report the clinical and neuropathological features of this case compared with those of other FALS...

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Source

Identifiers

PMID: 17585602

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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