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1. Central core disease: clinical, pathological, and genetic features

Author

Quinlivan, R.M., Muller, C.R., Davis, M., Laing, N.G., Evans, G.A., Dwyer, J., Dove, J., Roberts, A.P., and Sewry, C.A.

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
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 [...]

Published
2003

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