RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.

ABSTRACT:

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 hypotonia segregating in 2 pedigrees diagnosed with atypical Moebius syndrome or congenital fibrosis of the extraocular muscles.

Design, setting, and participants

Clinical data including medical and family histories were collected at research laboratories at Boston Children's Hospital and Jules Stein Eye Institute (Engle and Demer labs) for affected and unaffected famil

SUBMITTER: Shaaban S 

PROVIDER: S-EPMC3865174 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature