King-Denborough syndrome
Systemic/MultisystemOMIM 180901
W
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Overview
From WUSTL Neuromuscular●Ryanodine Receptor ● Nosology (Other names) King syndrome 10 Epidemiology Male preponderance (4:1) Genetics Ryr1 mutations: Missense; Lys33Glu, Thr2206Arg, Arg2452Trp, Arg2508Cys, Ser2776Phe Allelic disorders: Central core + Clinical Age of ascertainment: 2 to 14 years Malignant hyperthermia (94%) Triggered by heat or anesthesia Weakness (90%) Proximal Symmetric Mild Delayed motor development Scapular winging Myopathy often not present in other family members Tendon reflexes: Often reduced Skeletal abnormalities: Noonan syndrome-like Short stature (90%): < 5th percentile Chest: Pectus carinat
OMIM Entries
External Resources
Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.