King syndrome: further clinical variability and review of the literature.

doi:10.1002/(sici)1096-8628(19980707)78:3<254::aid-ajmg9>3.0.co;2-p

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Article

King syndrome: further clinical variability and review of the literature.

American journal of medical genetics - 7 Jul 1998

Graham G E, Silver K, Arlet V, Der Kaloustian V M

Abstract excerpt

The King syndrome is characterized by a Noonan-like phenotype, the presence of a nonspecific myopathy and a predisposition to malignant hyperthermia. In some families, mild physical manifestations of the phenotype and/or elevated serum creatine phosphokinase (CPK) in relatives suggest the presenc...

Topics

Abnormalities, Multiple
Child
Craniofacial Abnormalities
Creatine Kinase
Diaphragm
Female
Genes, Dominant
Humans
Lordosis
Malignant Hyperthermia
Muscle Fibers, Skeletal
Muscle, Skeletal
Muscular Diseases
Noonan Syndrome
Phenotype
Spinal Cord
Syndrome

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