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

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45 引文 斯高帕斯(Scopus)

摘要

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.

原文English
頁(從 - 到)709-711
頁數3
期刊Neuromuscular Disorders
20
發行號11
DOIs
出版狀態Published - 2010 11月

All Science Journal Classification (ASJC) codes

  • 兒科、圍產兒和兒童健康
  • 神經內科
  • 神經病學(臨床)
  • 遺傳學(臨床)

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