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Article

Flexor-dominant myopathic phenotype in patients with His46Arg substitution in the Cu/Zn superoxide dismutase gene.

Journal of the neurological sciences - 15 Jun 2009

Yamashita Satoshi, Kimura En, Yamamoto Fumio, Migita Akie, Kanda Eisuke, Mita Shuji, Teramoto Hitoo, Uchino Makoto

Abstract excerpt

We present the cases of 3 patients with a histidine-to-arginine substitution at position 46 of the Cu/Zn superoxide dismutase gene. Consistent with previous reports, the initial symptom in each patient was unilateral weakness in the distal leg muscles. Remarkably, muscular atrophy in these patients during the early stage of the disease was more specific to the flexor muscle group, with the extensor muscle group...

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Identifiers

PMID: 19344917
DOI: 10.1016/j.jns.2009.03.010

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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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