Patient (condition)
Aliases:
Topic aliases are alternate phrasings for a particular topic.
Myopathy, Central Core
1
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.
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An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)
www.nlm.nih.gov/cgi/mesh/...
www.nlm.nih.gov/cgi/mesh/...
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CCD is allelic to malignant hyperthermia dx.doi.org/10.1136/adc.88...
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