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Article

Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation.

Neurology - 8 Jan 2008

Sato I, Wu S, Ibarra M C A, Hayashi Y K, Fujita H, Tojo M, Oh S J, Nonaka I, Noguchi S, Nishino I

Abstract excerpt

BACKGROUND: Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) is a rare form of congenital myopathy, which is pathologically diagnosed by the presence of more than 99% of type 1 fiber, with no specific structural changes. Its pathogenic mechanism is still unknown. We recently re...

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Source

Identifiers

PMID: 17538032
DOI: 10.1212/01.wnl.0000269792.63927.86

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17538032-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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