ArticleNeuromuscular disorders : NMD2011
Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia.
Article in Neuromuscular disorders : NMD, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 41 citations in OpenAlex.
- Congenital myasthenic syndrome in China: genetic and myopathological characterization.Annals of clinical and translational neurology · 2021Article
- A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission.Neuromuscular disorders : NMD · 2019Article
- Italian recommendations for diagnosis and management of congenital myasthenic syndromes.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Article
- Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy.Neurology · 2018Article
- Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2018Review
- Congenital Myasthenic Syndromes in 2018.Current neurology and neuroscience reports · 2018Review
- Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.The Lancet. Neurology · 2015Review
- Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.Brain : a journal of neurology · 2015Review
- Inherited disorders of the neuromuscular junction: an update.Journal of neurology · 2014Review
- Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.Journal of molecular medicine (Berlin, Germany) · 2013Article
- New horizons for congenital myasthenic syndromes.Annals of the New York Academy of Sciences · 2012Review
- Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.Disease models & mechanisms · 2012Article
- Current status of the congenital myasthenic syndromes.Neuromuscular disorders : NMD · 2012Review
- Congenital myasthenic syndromes in 2012.Current neurology and neuroscience reports · 2012Review
- Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.Journal of neuromuscular diseasesReview
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
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.
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Registered trials
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