Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

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Population

34 families recruited on the basis of both clinically and morphologically expressed central core disease (CCD)

Design

Cohort

Authors

Discussion

May inform genetic diagnosis in central core disease families; extends RYR1 mutational spectrum but needs functional confirmation.

Population

34 families recruited on the basis of both clinically and morphologically expressed central core disease (CCD)

Intervention

Genetic analysis of the RYR1 gene

Outcome

Identification of mutations in the C-terminal domain of RYR1

Mutations in the C-terminal domain of RYR1, including neomutations and amino acid deletions, are associated with central core disease.

Nicole Monnier (2001) studied this question.

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