Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations
Author:
Publisher
Elsevier BV
Subject
Ophthalmology,Pediatrics, Perinatology, and Child Health
Reference10 articles.
1. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families;Alazami;Cell Rep,2015
2. Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence;Khan;J AAPOS,2015
3. Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies;Klein;Hum Mutat,2012
4. Core myopathies and malignant hyperthermia susceptibility: a review;Brislin;Paediatr Anaesth,2013
5. RYR1-related myopathies: a wide spectrum of phenotypes throughout life;Snoeck;Eur J Neurol,2015
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