Article
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.
JAMA ophthalmology - 1 Dec 2013
Shaaban Sherin, Ramos-Platt Leigh, Gilles Floyd H, Chan Wai-Man, Andrews Caroline, De Girolami Umberto, Demer Joseph, Engle Elizabeth C
Abstract excerpt
IMPORTANCE: Total ophthalmoplegia can result from ryanodine receptor 1 (RYR1) mutations without overt associated skeletal myopathy. Patients carrying RYR1 mutations are at high risk of developing malignant hyperthermia. Ophthalmologists should be familiar with these important clinical associations. OBJECTIVE: To determine the genetic cause of congenital ptosis, ophthalmoplegia, facial paralysis, and mild...
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