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

Patrick R. Blackburn, Duygu Selcen, Jennifer M. Gass, Jessica L. Jackson, Sarah Macklin, Margot A. Cousin, Nicole J. Boczek, Eric W. Klee, Elliot L. Dimberg, Kathleen D. Kennelly, Paldeep S. Atwal

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Medicine & Life Sciences