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Article

Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation.

Neuromuscular disorders : NMD - 1 Feb 2015

Villa Chet R, Ryan Thomas D, Collins James J, Taylor Michael D, Lucky Anne W, Jefferies John L

Abstract excerpt

Plectin mutations have been reported in epidermolysis bullosa simplex with muscular dystrophy. We report the first case of left ventricular non-compaction in an 18-year-old male with epidermolysis bullosa simplex with muscular dystrophy. The patient was diagnosed with epidermolysis bullosa simplex after blistering was noted at birth. Motor function difficulties were first recognized at age 11, however the patient...

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Identifiers

PMID: 25454730
DOI: 10.1016/j.nmd.2014.09.011

Provenance

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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