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Article

Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy.

Neuromuscular disorders : NMD - 1 May 1999

Hoeltzenbein M, Karow T, Zeller J A, Warzok R, Wulff K, Zschiesche M, Herrmann F H, Grosse-Heitmeyer W, Wehnert M S

Abstract excerpt

X-linked Emery-Dreifuss muscular dystrophy (EDMD) is a relatively rare benign neuromuscular disorder which can vary remarkably in onset, course and severity. In the present study, a TCTAC deletion spanning the nucleotides 631-635 of the emerin gene caused an unusually severe disease phenotype including loss of ambulation and severe muscle wasting in two affected brothers. The same mutation has been reported...

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Identifiers

PMID: 10382910
DOI: 10.1016/s0960-8966(98)00120-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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