A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

Neurology

Volumn 55, Issue 11, 2000, Pages 1689-1696

  Scacheri, P C ^a   Hoffman, E P ^a,b   Fratkin, J D ^f   Semino Mora, C ^b   Senchak, A ^b   Davis, M R ^c   Laing, N G ^c   Vedanarayanan, V ^d   Subramony, S H ^d,e  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b GEORGE WASHINGTON UNIVERSITY   (United States)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; RYANODINE RECEPTOR; THREONINE;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CENTRAL CORE DISEASE; CHROMOSOME 1; CHROMOSOME 19Q; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER; DNA SEQUENCE; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; MALE; MUSCLE BIOPSY; MYOPATHY; NEMALINE MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECEPTOR GENE; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0034642231     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.55.11.1689     Document Type: Article

References (35)

1. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
2. A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease
3. A mutation in the human ryanodine receptor gene associated with central core disease
4. Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families
5. Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: Novel mutations and concordance with the in vitro contracture test
6. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy
7. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
8. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
9. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
10. Central core and nemaline rods in the same patient
11. Congenital nonprogressive myopathy: Central core disease and nemaline myopathy in one family
12. Common origin of rods, cores, miniature cores, and focal loss of cross- striations
13. Adult-onset mixed myopathy with nemaline rods, minicores, and central cores: A muscle disorder mimicking polymyositis
14. Coexistence of minicores, cores, and rods in the same muscle biopsy. A new example of mixed congenital myopathy
15. 51st ENMC International Workshop: Nemaline Myopathy. 13-15 June 1997, Naarden, the Netherlands
16. Rapid examination of muscle tissue: An improved trichrome method forrapid diagnosis of muscle biopsy fresh-frozen sections
17. A comprehensive genetic map of the human genome based on 5,264 microsatellites
18. Parametric and nonparametric linkage analysis: A unified multipoint approach
19. The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene
20. Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin
21. Identification and localization of two triad junctional foot protein isoforms in mature avian fast twitch skeletal muscle
22. Developmental patterns of expression and coexpression of myosin heavy chains in atria and ventricles of the avian heart
23. Congenital myopathies
24. Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I
25. The human ryanodine receptor gene: Its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy
26. Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19
27. Immunofluorescence microscopy of a myopathy. Alpha-Actinin is a major constituent of nemaline rods
28. Intranuclear rods in severe congenital nemaline myopathy
29. Alpha-actinin and myosin light chains in congenital nemaline myopathy
30. Expression of cytoskeleton proteins in central core disease
31. Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor
32. Functional calcium release channel formed by the carboxyl-terminal portion of ryanodine receptor
33. Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum
34. Central core disease. Clinical features in 13 patients