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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Bibliografske podrobnosti
izdano v: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
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2017
Teme:
Clinical Reports
Online dostop: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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