Fifty year follow-up of a patient with central core disease shows slow but definite progression

Neuromuscular Disorders

Volumn 8, Issue 6, 1998, Pages 385-391

  Lamont, P J ^a   Dubowitz, V ^b   Landon, D N ^c   Davis, M ^c   Morgan Hughes, J A ^c  

^a ROYAL PERTH HOSPITAL   (Australia)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Central core disease; Clinical progression; Electron microscopy; Histopathology; RYR1 gene mutations

Indexed keywords

ADULT; ARTICLE; CASE REPORT; DISEASE COURSE; ELECTRON MICROSCOPY; FOLLOW UP; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MYOPATHY; PRIORITY JOURNAL;

DISEASE PROGRESSION; DNA; FOLLOW-UP STUDIES; HUMANS; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUSCLE FIBERS; MUSCLES; MUTATION; MYOPATHIES, NEMALINE; TIME FACTORS;

EID: 0032145805     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00043-1     Document Type: Article

References (20)

1. [1] Shy G, Magee K. A new congenital non-progressive myopathy. Brain 1956;79:610-621.
2. [2] Byrne E, Blumbergs P, Hallpike J. Central core disease. Study of a family with five affected generations. J Neurol Sci 1982;53:77-83.
3. [3] Bethlem J, Van Gool J, Hulsman W, Meijer A. Familial non-progressive myopathy with muscle cramps after exercise. Brain 1966;89:569-588.
4. [4] Dubowitz V, Roy S. Central core disease of muscle: clinical, histochemical and electron microscopic studies of an affected mother and child. Brain 1970;93:133-146.
5. [5] Engel W, Foster J, Hughes B, Huxley H, Mahler R. Central core disease - an investigation of a rare muscle cell abnormality. Brain 1961;84:167-185.
6. [6] Quane K, Keating K, Healy J, et al. Mutation screening of the RYR1 gene in malignant hyperthermis: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. Genomics 1994;23:236-239.
7. [7] Otsu K, Phillips M, Khanna V, De Leon S, MacLennan D. Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia. Genomics 1992;13:835-837.
8. [8] Quane K, Healy J, Keating K, et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet 1993;5:51-55.
9. [9] Zhang Y, Chen H, Khanna V, et al. A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet 1993;5:46-50.
10. [10] Phillips M, Khanna V, De Leon S, Frodis W, Britt B, MacLennan D. The substitution of Arg for G1y2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia. Hum Mol Genet 1994;3:2182-2186.
11. [11] Alestrom A, Fagerlund T, Berg K. A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility. Clin Genet 1995;47:274-275.
12. [12] Phillips M, Fujii J, Khanna V, et al. The structural organisation of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics 1996;34:24-41.
13. [13] Morgan-Hughes J, Brett E, Lake B, Tome F. Central core disease or not? Observations on a family with a non-progressive myopathy. Brain 1973;96:527-536.
14. [14] Patterson V, Hill T, Fletcher P, Heron J. Central core disease. Clinical and pathological evidence of progression within a family. Brain 1979;102:581-594.
15. [15] Denborough M, Dennet X, Anderson R. Central core disease and malignant hyperpyrexia. Br Med J 1973;1:272-273.
16. [16] Kausch K, Lehmann-Horn F, Janka M, Wieringa B, Grimm T, Muller C. Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Genomics 1991;10:765-769.
17. [17] Mulley J, Kozman H, Phillips H, et al. Refined genetic location for central core disease. Am J Am Genet 1993;52:398-405.
18. [18] Monnier N, Procaccio V, Stieglitz P, Lunardi J. Malignant-hyperthermia susceptibility is associated with a mutation of the alpha(1)-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet 1997;60:1316-1325.
19. [19] Takeshima H, Iino M, Takekura H, et al. Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene. Nature 1994;369:556-559.
20. [20] Hayashi K, Miller RG, Brownell KW. Central core disease - ultrastructure of the sarcoplasmic-reticulum and T-tubules. Muscle Nerve 1989;12:95-102.