150th ENMC International Workshop: Core Myopathies, 9–11th March 2007, Naarden, The Netherlands
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference29 articles.
1. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multi-minicore disease: reassessing the nosology of early-onset myopathies;Ferreiro;Am J Hum Genet,2002
2. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene;Ferreiro;Ann Neurol,2002
3. Autosomal-recessive inheritance of RYR1 mutations in a congenital myopathy with cores;Jungbluth;Neurology,2002
4. A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia;Monnier;Hum Mol Genet,2003
5. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene;Jungbluth;Neurology,2005
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1. An Overview of Congenital Myopathies;CONTINUUM: Lifelong Learning in Neurology;2016-12
2. 217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016;Neuromuscular Disorders;2016-09
3. Muscle spindles exhibit core lesions and extensive degeneration of intrafusal fibers in the Ryr1 mouse model of core myopathy;Biochemical and Biophysical Research Communications;2015-04
4. Congenital and Other Structural Myopathies;Neuromuscular Disorders of Infancy, Childhood, and Adolescence;2015
5. Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report;BMC Research Notes;2014-08-01
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