Article
King syndrome: a genetically heterogenous phenotype due to congenital myopathies.
American journal of medical genetics - 1 Aug 1992
Chitayat D, Hodgkinson K A, Ginsburg O, Dimmick J, Watters G V
Abstract excerpt
We report on a patient with myopathy, kyphoscoliosis, joint contractures, and a facial appearance consistent with King syndrome. Unlike other reported cases, our patient had hyperextensible joints, normal stature, and pectus excavatum. The cardiac ventricles, aorta, and pulmonary artery were dilated. Malignant hyperthermia did not occur under anaesthesia although there was a transient increase in CK levels....
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