Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1-Reference-Cited by-同舟云学术

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

Published:2017-03-30 Issue:3 Volume:5 Page:295-302
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Blackburn Patrick R.¹²^ORCID,Selcen Duygu³,Gass Jennifer M.¹^ORCID,Jackson Jessica L.⁴,Macklin Sarah⁴,Cousin Margot A.⁵⁶^ORCID,Boczek Nicole J.⁵⁶^ORCID,Klee Eric W.⁵⁶⁷⁸,Dimberg Elliot L.⁹,Kennelly Kathleen D.⁹,Atwal Paldeep S.¹⁴^ORCID

Affiliation:

1. Center for Individualized Medicine; Mayo Clinic; Jacksonville Florida

2. Department of Health Sciences Research; Mayo Clinic; Jacksonville Florida

3. Department of Neurology; Mayo Clinic; Rochester Minnesota

4. Department of Clinical Genomics; Mayo Clinic; Jacksonville Florida

5. Center for Individualized Medicine; Mayo Clinic; Rochester Minnesota

6. Department of Health Sciences Research; Mayo Clinic; Rochester Minnesota

7. Department of Clinical Genomics; Mayo Clinic; Rochester Minnesota

8. Department of Laboratory Medicine and Pathology; Mayo Clinic; Rochester Minnesota

9. Department of Neurology; Mayo Clinic; Jacksonville Florida

Funder

Mayo Clinic