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

Abstract

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, and strength improved with pyridostigmine. Subtle blistering noticed only retrospectively prompted further genetic testing, revealing recessive PLEC1 mutations. We conclude that PLEC1 should be considered in the differential diagnosis of congenital muscular dystrophies and myasthenic syndromes, even in the absence of prominent skin involvement.

• Authors: Katharine Forrest, Jemima E Mellerio, Stephanie Robb, Patricia J C Dopping-Hepenstal, John A McGrath, Lu Liu, Stefan J A Buk, Safa Al-Sarraj, Elizabeth Wraige, Heinz Jungbluth
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 20 Issue 11 Pg. 709-11 (Nov 2010) ISSN: 1873-2364 [Electronic] England
• PMID: 20624679 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2010 Elsevier B.V. All rights reserved.

Chemical References

• PLEC protein, human
• Plectin

Topics

• Child
• Epidermolysis Bullosa Simplex (genetics)
• Humans
• Male
• Muscular Dystrophies (congenital, genetics)
• Mutation
• Plectin (genetics)