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Article

Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.

Neurogenetics - 1 Jul 2006

Okamoto Yuji, Takashima Hiroshi, Higuchi Itsuro, Matsuyama Wataru, Suehara Masahito, Nishihira Yasushi, Hashiguchi Akihiro, Hirano Ryuki, Ng Arlene R, Nakagawa Masanori, Izumo Shuji, Osame Mitsuhiro, Arimura Kimiyoshi

Abstract excerpt

Mutations of selenoprotein N, 1 gene (SEPN1) cause rigid spine with muscular dystrophy type 1 (RSMD1), multiminicore disease, and desmin-related myopathy. We found two novel SEPN1 mutations in two Japanese patients with RSMD1. To clarify the pathomechanism of RSMD1, we performed immunohistochemical studies using a newly developed antibody for selenoprotein N. Selenoprotein N was diffusely distributed in the...

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PMID: 16779558
DOI: 10.1007/s10048-006-0046-0

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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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