164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16–18th January 2009, Naarden, The Netherlands
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference25 articles.
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3. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast;Laporte;Nat Genet,1996
4. Mutations in dynamin 2 cause dominant centronuclear myopathy;Bitoun;Nat Genet,2005
5. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset;Bitoun;Ann Neurol,2007
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1. Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1-Related Congenital Centronuclear Myopathy;Journal of Pediatric Genetics;2021-07-03
2. ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies;Acta Neuropathologica Communications;2019-01-05
3. A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres;Neuromuscular Disorders;2015-04
4. ECEL1mutation causes fetal arthrogryposis multiplex congenita;American Journal of Medical Genetics Part A;2015-02-23
5. 198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May – 2nd June 2013, Naarden, The Netherlands;Neuromuscular Disorders;2013-12
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