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Article

Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene.

Neuromuscular disorders : NMD - 1 Jun 2012

Østern Rune, Fagerheim Toril, Ørstavik Kristin, Holmøy Trygve, Heiberg Arvid, Lund-Petersen Inger, Strom Tim M, Nilssen Øivind, Dahl Arve

Abstract excerpt

Mutant genes associated with Charcot Marie Tooth type 2, distal hereditary motor neuropathy and familial amyotrophic lateral sclerosis may cause overlapping clinical phenotypes. We performed whole genome linkage analysis, haplotype analysis, sequencing and detailed clinical and neurophysiological investigations in a large Norwegian kindred with a condition that clinically had been classified as Charcot Marie...

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PMID: 22475618
DOI: 10.1016/j.nmd.2012.01.011

Genes

SOD1

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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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