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Article

Presence of emerinopathy in cases of rigid spine syndrome.

Neuromuscular disorders : NMD - 1 Oct 1998

Kubo S, Tsukahara T, Takemitsu M, Yoon K B, Utsumi H, Nonaka I, Arahata K

Abstract excerpt

Rigid spine syndrome (RSS) shows clinical similarities to Emery-Dreifuss muscular dystrophy (EDMD). Differential diagnosis between EDMD and RSS is essential because EDMD is often associated with life-threatening cardiomyopathy that can be cured by an implantation of a cardiac pacemaker. To determine if any of the patients with RSS had mutations of the emerin gene (responsible gene for X-linked EDMD or...

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Identifiers

PMID: 9829281
DOI: 10.1016/s0960-8966(98)00069-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Presence of emerinopathy in cases of rigid spine syndrome.PMID 9829281Read ↗

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Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.Semantic proximity Read ↗

Limb-girdle muscular dystrophy due to emerin gene mutations.Semantic proximity Read ↗

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.Semantic proximity Read ↗

EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiencySemantic proximity Read ↗

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Emerin in health and disease.Semantic proximity Read ↗

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