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Central core disease: clinical, pathological, and genetic features

Authors :
Quinlivan, R.M.
Muller, C.R.
Davis, M.
Laing, N.G.
Evans, G.A.
Dwyer, J.
Dove, J.
Roberts, A.P.
Sewry, C.A.
Source :
Archives of Disease in Childhood. December 2003, Vol. 88 Issue 12, p1051, 5 p.
Publication Year :
2003

Abstract

Arch Dis Child 2003;88:1051-1055 Central core disease (CCD) is a dominantly inherited congenital myopathy allelic to malignant hyperthermia (MH) caused by mutations in the RYR1 gene on chromosome 19q13.1. Eleven [...]

Subjects

Subjects :
Diagnosis
Development and progression
Research
Genetic aspects
Genetic disorders -- Research -- Genetic aspects -- Diagnosis -- Development and progression
Muscular diseases -- Genetic aspects -- Diagnosis -- Development and progression -- Research
Muscle diseases -- Genetic aspects -- Diagnosis -- Development and progression -- Research

Details

Language :
English
ISSN :
00039888
Volume :
88
Issue :
12
Database :
Gale General OneFile
Journal :
Archives of Disease in Childhood
Publication Type :
Academic Journal
Accession number :
edsgcl.112016406

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Authors Abstract Subjects Details