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Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.

Neuromuscular disorders : NMD - 1 Nov 2010

Forrest Katharine, Mellerio Jemima E, Robb Stephanie, Dopping-Hepenstal Patricia J C, McGrath John A, Liu Lu, Buk Stefan J A, Al-Sarraj Safa, Wraige Elizabeth, Jungbluth Heinz

Abstract excerpt

Mutations in the PLEC1 gene encoding plectin have been reported in neonatal epidermolysis bullosa simplex with muscular dystrophy of later-onset (EBS-MD). A neuromuscular transmission defect has been reported in one previous patient. We report a boy presenting from birth with features of a congenital muscular dystrophy and late-onset myasthenic symptoms. Repetitive nerve stimulation showed significant decrement,...

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Identifiers

PMID: 20624679
DOI: 10.1016/j.nmd.2010.06.003

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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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Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.PMID 20624679Read ↗

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