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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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Detalles Bibliográficos
Autores principales:	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.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441401/ https://www.ncbi.nlm.nih.gov/pubmed/28547000 http://dx.doi.org/10.1002/mgg3.280

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