Assignment of the Gene for Central Core Disease to Chromosome 19

Overview

Journal Hum Genet

Specialty Genetics

Date 1990 Dec 1

PMID 2265831

Citations 10

Authors

E A Haan

C J Freemantle

J A McCure

K L Friend

J C Mulley

Affiliations

Soon will be listed here.

Abstract

In a large kindred in which the gene for central core disease is segregating, we have demonstrated linkage between the disorder and a marker on chromosome 19q. Marker D19S9 (p1J2) was linked to central core disease with a lod score of 6.4 at theta = 0.03 (support interval 0.01-0.14) thus localizing the gene for this disorder in or very close to 19q12-q13.2.

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Refined genetic localization for central core disease.

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References

Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G . Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet. 1989; 51(1-4):622-947. DOI: 10.1159/000132810. View

Shuaib A, Paasuke R, Brownell K . Central core disease. Clinical features in 13 patients. Medicine (Baltimore). 1987; 66(5):389-96. View

Dubowitz V, Pearse A . Oxidative enzymes and phosphorylase in central-core disease of muscle. Lancet. 1960; 2(7140):23-4. DOI: 10.1016/s0140-6736(60)92665-9. View

Isaacs H, Heffron J, Badenhorst M . Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study. J Neurol Neurosurg Psychiatry. 1975; 38(12):1177-86. PMC: 492184. DOI: 10.1136/jnnp.38.12.1177. View

BETHLEM J, VAN GOOL J, Hulsmann W, Meijer A . Familial non-progressive myopathy with muscle cramps after exercise. A new disease associated with cores in the muscle fibres. Brain. 1966; 89(3):569-88. DOI: 10.1093/brain/89.3.569. View

MAGEE K, SHY G . A new congenital non-progressive myopathy. Brain. 1956; 79(4):610-21. DOI: 10.1093/brain/79.4.610. View

Ott J . A computer program for linkage analysis of general human pedigrees. Am J Hum Genet. 1976; 28(5):528-9. PMC: 1685114. View

Mulley J, Gedeon A, Thorn K, Bates L, Sutherland G . Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14. Am J Med Genet. 1987; 27(2):435-48. DOI: 10.1002/ajmg.1320270222. View

FRANK J, Harati Y, Butler I, Nelson T, Scott C . Central core disease and malignant hyperthermia syndrome. Ann Neurol. 1980; 7(1):11-7. DOI: 10.1002/ana.410070105. View

10.

Le Beau M, Ryan Jr D, Pericak-Vance M . Report of the committee on the genetic constitution of chromosomes 18 and 19. Cytogenet Cell Genet. 1989; 51(1-4):338-57. DOI: 10.1159/000132798. View

11.

McCarthy T, Healy J, Heffron J, Lehane M, Deufel T, Lehmann-Horn F . Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature. 1990; 343(6258):562-4. DOI: 10.1038/343562a0. View

12.

Byrne E, Blumbergs P, Hallpike J . Central core disease. Study of a family with five affected generations. J Neurol Sci. 1982; 53(1):77-83. DOI: 10.1016/0022-510x(82)90081-8. View

13.

Nakamura Y, Lathrop M, OConnell P, Leppert M, Lalouel J, White R . A primary map of ten DNA markers and two serological markers for human chromosome 19. Genomics. 1988; 3(1):67-71. DOI: 10.1016/0888-7543(88)90161-9. View

14.

GAHNE B, Juneja R . Prediction of the halothane (Hal) genotypes of pigs by deducing Hal, Phi, Po2, Pgd haplotypes of parents and offspring: results from a large-scale practice in Swedish breeds. Anim Blood Groups Biochem Genet. 1985; 16(4):265-83. DOI: 10.1111/j.1365-2052.1985.tb01479.x. View

15.

Andresen E, Jensen P . Close linkage established between the HAL locus for halothane sensitivity and the PHI (phosphohexose isomerase) locus in pigs of the Danish Landrace breed. Nord Vet Med. 1977; 29(11):502-4. View

16.

Denborough M, Dennett X, Anderson R . Central-core disease and malignant hyperpyrexia. Br Med J. 1973; 1(5848):272-3. PMC: 1588091. DOI: 10.1136/bmj.1.5848.272. View

17.

Maclennan D, Duff C, Zorzato F, Fujii J, Phillips M, Korneluk R . Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature. 1990; 343(6258):559-61. DOI: 10.1038/343559a0. View