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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 determ...

Topics

Adolescent
Adult
Base Sequence
Biopsy
Child
DNA Mutational Analysis
Exons
Humans
Male
Membrane Proteins
Muscle, Skeletal
Mutation
Nuclear Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single-Stranded Conformational

Spinal Diseases

Syndrome

Thymopoietins

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9829281-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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

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