eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | myopathy |
| Symptom | C0024591|malignant hyperthermia |
| Sentences | 3 |
| 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. |
| PubMedID- 23736855 | In addition, stac3 is an attractive candidate for the genetic basis of currently undefined congenital myopathies, particularly those associated with susceptibility to malignant hyperthermia and/or those with phenotypes similar to those of patients with ryr1 or dhpr mutations. |
| 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. |
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