Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia

Teerin Liewluck, Xin Ming Shen, Margherita Milone, Andrew G Engel

Research output: Contribution to journalArticle

33 Scopus citations

Abstract

Centronuclear myopathy is a pathologically diagnosed congenital myopathy. The disease genes encode proteins with membrane modulating properties (MTM1, DNM2, and BIN1) or alter excitation-contraction coupling (RYR1). Some patients also have myasthenic symptoms but electrodiagnostic and endplate studies in these are limited. A sporadic patient had fatigable weakness and a decremental EMG response. Analysis of centronuclear myopathy disease- and candidate-genes identified no mutations. Quantitative endplate electron microscopy studies revealed simplified postsynaptic regions, endplate remodeling with normal nerve terminal size, normal synaptic vesicle density, and mild acetylcholine receptor deficiency. The amplitude of the miniature endplate potential was decreased to 60% of normal. Quantal release by nerve impulse was reduced to 40% of normal due to a decreased number of releasable quanta. The safety margin of neuromuscular transmission is compromised by decreased quantal release by nerve impulse and by a reduced postsynaptic response to the released quanta.

Original languageEnglish (US)
Pages (from-to)387-395
Number of pages9
JournalNeuromuscular Disorders
Volume21
Issue number6
DOIs
StatePublished - Jun 2011

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Keywords

  • Centronuclear myopathy
  • Myasthenic syndrome
  • Neuromuscular junction
  • Synaptic vesicle cycle

ASJC Scopus subject areas

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

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