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Article

Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

Neuromuscular disorders : NMD - 1 May 2005

Matsumoto Hiroshi, Hayashi Yukiko K, Kim Dae-Son, Ogawa Megumu, Murakami Terumi, Noguchi Satoru, Nonaka Ikuya, Nakazawa Tomoyuki, Matsuo Takiko, Futagami Satoshi, Campbell Kevin P, Nishino Ichizo

Abstract excerpt

Glycosylation defects of alpha-dystroglycan (alpha-DG) cause various muscular dystrophies. We performed clinical, pathological and genetic analyses of 62 Japanese patients with congenital muscular dystrophy, whose skeletal muscle showed deficiency of glycosylated form of alpha-DG. We found, the first Japanese patient with congenital muscular dystrophy 1C with a novel compound heterozygous mutation in the...

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Identifiers

PMID: 15833426
DOI: 10.1016/j.nmd.2005.01.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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