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

Neuromuscular Disorders

Volumn 12, Issue 6, 2002, Pages 588-595

  De Cauwer, Harald ^a,b   Heytens, Luc ^a   Martin, Jean Jacques ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b Klina Regional Hospital   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

BICEPS BRACHII MUSCLE; CENTRAL CORE DISEASE; CLINICAL FEATURE; CLINICAL TRIAL; COHORT ANALYSIS; COMORBIDITY; CONFERENCE PAPER; CONTRACTURE; DATA BASE; DIAGNOSTIC PROCEDURE; DISEASE COURSE; DISEASE MARKER; FAMILY; GASTROCNEMIUS MUSCLE; GENETIC ANALYSIS; GENETICS; HAPLOTYPE; HIP; HIP DISLOCATION; HISTOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; INHERITANCE; INTERNET; LABORATORY TEST; MEDICAL RESEARCH; MULTIPLE CORE DISEASE; MUSCLE BIOPSY; MYOPATHY; PATHOLOGY; PERIPHERAL CORE DISEASE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; TISSUE SECTION; TRUNK;

HUMANS; MYOPATHY, CENTRAL CORE;

EID: 0036315357     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(02)00002-0     Document Type: Conference Paper

References (13)

1. Discordant light microscopic, electron microscopic, and in vitro contracture test study findings in a family with central core disease
2. Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed
3. Malignant hyperthermia and central core disease: Analysis of two families with heterogeneous clinical expression
4. A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance
5. Multicore myopathy presenting in adulthood with respiratory failure
6. Pleocore disease. Multi-minicore disease and focal loss of striations
7. Multi-minicore disease-searching for boundaries: Phenotype analysis of 38 cases
8. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor
9. Assignment of the gene for central core disease to chromosome 19
10. Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: Implications for diagnosis and heterogeneity studies
11. 2+ releases channel function and severe central core disease
12. Segregation of malignant hyperthermia, central core disease and chromosome 19 markers
13. Gly341Arg mutation indicating malignant hyperthermia susceptibility: Specific cause of chronically elevated serum creatine kinase activity