Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

BACKGROUND: Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber‐type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS: We present a p...

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Bibliographic Details
Published in:Mol Genet Genomic Med
Main Authors: Blackburn, Patrick R., Selcen, Duygu, Gass, Jennifer M., Jackson, Jessica L., Macklin, Sarah, Cousin, Margot A., Boczek, Nicole J., Klee, Eric W., Dimberg, Elliot L., Kennelly, Kathleen D., Atwal, Paldeep S.
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2017
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Clinical Reports
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5441401/
https://ncbi.nlm.nih.gov/pubmed/28547000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.280
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