Workshop report of the 89th ENMC International Workshop: Central Core Disease, 19th–20th January 2001, Hilversum, The Netherlands

This publication has 11 references indexed in Scilit:

• 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
• Segregation of malignant hyperthermia, central core disease and chromosome 19 markers
  British Journal of Anaesthesia, 1999
• A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca ²⁺ release channel function and severe central core disease
  Proceedings of the National Academy of Sciences, 1999
• A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance
  Neuromuscular Disorders, 1998
• Multicore myopathy presenting in adulthood with respiratory failure
  Muscle & Nerve, 1997
• Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed
  Neuromuscular Disorders, 1995
• Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies
  Human Molecular Genetics, 1994
• Malignant hyperthermia and central core disease: Analysis of two families with heterogeneous clinical expression
  Neuromuscular Disorders, 1993
• Assignment of the gene for central core disease to chromosome 19
  Human Genetics, 1990
• Pleocore disease
  Acta Neuropathologica, 1986