Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in <i>RYR1</i>.

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

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.

Afiliação

Blackburn PR; Center for Individualized MedicineMayo ClinicJacksonvilleFlorida.
Selcen D; Department of Health Sciences ResearchMayo ClinicJacksonvilleFlorida.
Gass JM; Department of NeurologyMayo ClinicRochesterMinnesota.
Jackson JL; Center for Individualized MedicineMayo ClinicJacksonvilleFlorida.
Macklin S; Department of Clinical GenomicsMayo ClinicJacksonvilleFlorida.
Cousin MA; Department of Clinical GenomicsMayo ClinicJacksonvilleFlorida.
Boczek NJ; Center for Individualized MedicineMayo ClinicRochesterMinnesota.
Klee EW; Department of Health Sciences ResearchMayo ClinicRochesterMinnesota.
Dimberg EL; Center for Individualized MedicineMayo ClinicRochesterMinnesota.
Kennelly KD; Department of Health Sciences ResearchMayo ClinicRochesterMinnesota.
Atwal PS; Center for Individualized MedicineMayo ClinicRochesterMinnesota.