central core disease

Central core disease is inherited in an autosomal dominant fashion.

RyR1 mutations are associated with malignant hyperthermia and central core disease.

People with central core disease typically have poor reactions to surgeries and some medications, which require the use of muscle relaxants.

It has also been postulated that MH and central core disease may be allelic and thus can be co-inherited.

Central core disease (CCD), also known as central core myopathy, is an autosomal dominant congenital myopathy (inborn muscle disorder).

BCH None Benign congenital hypotonia (BCH) has been an outdated term since 1956, when the first congenital muscle disease, central core disease, was described.

MH susceptibility is phenotypically and genetically related to central core disease (CCD), an autosomal dominant disorder characterized both by MH symptoms and myopathy.

Mutations in the RYR1 gene are associated with malignant hyperthermia susceptibility, central core disease, minicore myopathy with external ophthalmoplegia and samaritan myopathy, a benign congenital myopathy.

He has led teams that defined the genetic basis for the human skeletal muscle diseases, malignant hyperthermia, central core disease and Brody disease and he has demonstrated that mutations in phospholamban, a regulator of the calcium pump, can cause cardiomyopathy.