Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

This publication has 33 references indexed in Scilit:

• Characterization of recessive RYR1 mutations in core myopathies
  Human Molecular Genetics, 2006
• Frequency and localization of mutations in the 106 exons of theRYR1 gene in 50 individuals with malignant hyperthermia
  Human Mutation, 2006
• Central core disease is due to RYR1 mutations in more than 90% of patients
  Brain, 2006
• Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes
  Biochemical Journal, 2006
• Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders
  Neuromuscular Disorders, 2005
• Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations
  Neuromuscular Disorders, 2004
• 111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9–11 November 2002, Naarden, The Netherlands
  Neuromuscular Disorders, 2004
• Effect of Ryanodine Receptor Mutations on Interleukin-6 Release and Intracellular Calcium Homeostasis in Human Myotubes from Malignant Hyperthermia-susceptible Individuals and Patients Affected by Central Core Disease
  Journal of Biological Chemistry, 2004
• 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
  Annals of Neurology, 2002
• A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
  Nature Genetics, 1996