2015•Neuromuscular DisordersRequires access

Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy

Natalia Kraeva, Luc Heytens, Heinz Jungbluth, Susan Treves, Nicol C. Voermans, Erik‐Jan Kamsteeg, Chantal Ceuterick‐de Groote, Jonathan Baets, Sheila Riazi

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Key concepts: RYR1, Malignant hyperthermia, Central core disease, Congenital myopathy, Myopathy, Compound heterozygosity, Allele, Genetics

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Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy — Research Paper | ScholarLens