198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May – 2nd June 2013, Naarden, The Netherlands
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference67 articles.
1. 164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16–18th January 2009, Naarden, The Netherlands;Jungbluth;Neuromuscul Disord,2009
2. Centronuclear myopathies: a widening concept;Romero;Neuromuscul Disord,2010
3. Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation;Bohm;Orphanet J Rare Dis,2010
4. Susman RD, Quijano-Roy S, Yang N, et al. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 2010;20:229–37.
5. Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy;Bohm;Hum Mutat,2012
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5. Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy;Molecular Medicine Reports;2016-03-28
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