Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.
Patrick R BlackburnDuygu SelcenJennifer M GassJessica L JacksonSarah MacklinMargot A CousinNicole J BoczekEric W KleeElliot L DimbergKathleen D KennellyPaldeep S AtwalPublished in: Molecular genetics & genomic medicine (2017)
Review of her clinical, pathologic, and genetic findings pointed to a diagnosis of a congenital myopathy with fiber-type disproportion.