The spectrum of pathology in central core disease

This publication has 27 references indexed in Scilit:

• Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores
  Neurology, 2002
• A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy
  Neurology, 2000
• An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor
  Human Molecular Genetics, 2000
• Report of the 70th ENMC International Workshop: Nemaline myopathy, 11–13 June 1999, Naarden, The Netherlands
  Neuromuscular Disorders, 2000
• Ryanodine receptor mutations in malignant hyperthermia and central core disease
  Human Mutation, 2000
• Immunocytochemical analysis of human muscular dystrophy
  Microscopy Research and Technique, 2000
• Voltage-Gated Ion Channels and Hereditary Disease
  Physiological Reviews, 1999
• Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.
  Proceedings of the National Academy of Sciences, 1993
• CENTRAL CORE DISEASE OR NOT?
  Brain, 1973
• A NEW CONGENITAL NON-PROGRESSIVE MYOPATHY
  Brain, 1956