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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease myopathy
Comorbidity C0024591|malignant hyperthermia
Sentences 3
PubMedID- 22030266 The clinical phenotypes seen among affected family members varies widely in severity, and have features in common with those congenital myopathies associated with malignant hyperthermia susceptibility, raising the possibility that these conditions represent a spectrum of disease.
PubMedID- 23897489 myopathic changes in malignant hyperthermia-susceptible patients.
PubMedID- 25874788 The origin of the article was a case of congenital myopathy with recognized malignant hyperthermia in an 18-year-old patient, in whom surgical extraction of teeth was indicated.

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