Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0024591 (
malignant hyperthermia
)
2,353
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Two families are presented, each with two affected sibs, all four of whom seem to have a newly described and specific form of congenital contractures (arthrogryposis). The affected subjects have congenital
torticollis
, dysmorphic, asymmetrical, myopathic facial features, and progressive scoliosis. Two sibs had cleft palate.
Malignant hyperthermia
has occurred in two of the patients.
...
PMID:A recessive form of congenital contractures and torticollis associated with malignant hyperthermia. 334 84
