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

Neuromuscular Disorders : NMD
Katharine ForrestHeinz Jungbluth

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.

References

Jan 1, 1989·The Journal of Pediatrics·G KletterH G Bock
Dec 1, 1994·Pediatric Dermatology·A PatriziM Masi
Apr 30, 1996·Proceedings of the National Academy of Sciences of the United States of America·C G LiuG Wiche
May 15, 1996·The Journal of Clinical Investigation·Y GacheJ P Ortonne
Aug 14, 1999·Journal of Neuropathology and Experimental Neurology·B L BanwellA G Engel
Dec 17, 2003·The Journal of Investigative Dermatology·Alexandra CharlesworthGuerrino Meneguzzi
May 4, 2005·Cellular and Molecular Life Sciences : CMLS·C Jimenez-MallebreraF Muntoni
Jun 8, 2006·Trends in Cell Biology·Sandy H M LitjensArnoud Sonnenberg
Jun 1, 2005·Journal of Clinical Neuromuscular Disease·Canan CelikBelgin Karaoglan
Feb 27, 2009·American Journal of Physiology. Cell Physiology·Sungsoo NaNing Wang
Dec 1, 2009·Dermatologic Clinics·Günther A RezniczekGerhard Wiche

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Citations

Aug 7, 2012·Acta Neuropathologica·Lilli Winter, Gerhard Wiche
Jun 12, 2013·Histochemistry and Cell Biology·Maria J CastañónGerhard Wiche
Oct 15, 2011·Current Neurology and Neuroscience Reports·Andrew G Engel
Apr 19, 2011·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Nina BarišićHanns Lochmüller
Apr 29, 2016·BioMed Research International·Uluç YisSebahattin Cirak
Nov 23, 2011·Neuromuscular Disorders : NMD·Andrew G Engel
Dec 23, 2014·Journal of Dermatological Science·Ken Natsuga
Aug 27, 2019·Muscle & Nerve·Stefan NicolauTeerin Liewluck
Feb 28, 2019·Orphanet Journal of Rare Diseases·Josef Finsterer
Sep 12, 2019·Muscle & Nerve·Aixa Gonzalez GarciaSumit Verma
Aug 7, 2020·Neuropathology and Applied Neurobiology·H Argente-EscrigR Schröder

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