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

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

doi:10.1016/j.nmd.2010.06.003

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

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

Department of Dermatology

Research output: Contribution to journal › Article › peer-review

45 Citations (Scopus)

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.

Original language	English
Pages (from-to)	709-711
Number of pages	3
Journal	Neuromuscular Disorders
Volume	20
Issue number	11
DOIs	https://doi.org/10.1016/j.nmd.2010.06.003
Publication status	Published - 2010 Nov

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health
Neurology
Clinical Neurology
Genetics(clinical)

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10.1016/j.nmd.2010.06.003

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Forrest, K., Mellerio, J. E., Robb, S., Dopping-Hepenstal, P. J. C., Mcgrath, J. A., Liu, L., Buk, S. J. A., Al-Sarraj, S., Wraige, E., & Jungbluth, H. (2010). Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscular Disorders, 20(11), 709-711. https://doi.org/10.1016/j.nmd.2010.06.003

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title = "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.",

author = "Katharine Forrest and Mellerio, {Jemima E.} and Stephanie Robb and Dopping-Hepenstal, {Patricia J.C.} and Mcgrath, {John A.} and Lu Liu and Buk, {Stefan J.A.} and Safa Al-Sarraj and Elizabeth Wraige and Heinz Jungbluth",

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Forrest, K, Mellerio, JE, Robb, S, Dopping-Hepenstal, PJC, Mcgrath, JA, Liu, L, Buk, SJA, Al-Sarraj, S, Wraige, E & Jungbluth, H 2010, 'Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin', Neuromuscular Disorders, vol. 20, no. 11, pp. 709-711. https://doi.org/10.1016/j.nmd.2010.06.003

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AU - Forrest, Katharine

AU - Mellerio, Jemima E.

AU - Robb, Stephanie

AU - Dopping-Hepenstal, Patricia J.C.

AU - Mcgrath, John A.

AU - Liu, Lu

AU - Buk, Stefan J.A.

AU - Al-Sarraj, Safa

AU - Wraige, Elizabeth

AU - Jungbluth, Heinz

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AB - 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.

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

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