Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency

Autor: Deeb, Kristin K., Bedoyan, Jirair K., Wang, Raymond, Sremba, Leighann, Schroeder, Molly C., Grahame, George J., Boyer, Monica, McCandless, Shawn E., Kerr, Douglas S., Zhang, Shulin

Publikováno v: In Molecular Genetics and Metabolism Reports 2014 1:362-367

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene ( PDP1 ) causing pyruvate dehydrogenase complex deficiency.

Autor: Bedoyan JK; Department of Genetics and Genome Sciences Case Western Reserve University (CWRU) Cleveland Ohio.; Pediatrics Case Western Reserve University (CWRU) Cleveland Ohio.; Center for Human Genetics University Hospitals Cleveland Medical Center (UHCMC) Cleveland Ohio.; Center for Inherited Disorders of Energy Metabolism (CIDEM) University Hospitals Cleveland Medical Center (UHCMC) Cleveland Ohio., Hecht L; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Boston Massachusetts., Zhang S; Pathology and Laboratory Medicine University of Kentucky Lexington Kentucky., Tarrant S; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Boston Massachusetts., Bergin A; Department of Neurology Boston Children's Hospital, Harvard Medical School Boston Massachusetts., Demirbas D; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Boston Massachusetts., Yang E; Radiology Boston Children's Hospital, Harvard Medical School Boston Massachusetts., Shin HK; School of Medicine Case Western Reserve University (CWRU) Cleveland Ohio., Grahame GJ; Center for Inherited Disorders of Energy Metabolism (CIDEM) University Hospitals Cleveland Medical Center (UHCMC) Cleveland Ohio., DeBrosse SD; Department of Genetics and Genome Sciences Case Western Reserve University (CWRU) Cleveland Ohio.; Pediatrics Case Western Reserve University (CWRU) Cleveland Ohio.; Center for Human Genetics University Hospitals Cleveland Medical Center (UHCMC) Cleveland Ohio., Hoppel CL; Center for Inherited Disorders of Energy Metabolism (CIDEM) University Hospitals Cleveland Medical Center (UHCMC) Cleveland Ohio.; Medicine Case Western Reserve University (CWRU) Cleveland Ohio.; Pharmacology Case Western Reserve University (CWRU) Cleveland Ohio., Kerr DS; Pediatrics Case Western Reserve University (CWRU) Cleveland Ohio.; Center for Inherited Disorders of Energy Metabolism (CIDEM) University Hospitals Cleveland Medical Center (UHCMC) Cleveland Ohio., Berry GT; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Boston Massachusetts.

Publikováno v: JIMD reports [JIMD Rep] 2019 Jun 17; Vol. 48 (1), pp. 26-35. Date of Electronic Publication: 2019 Jun 17 (Print Publication: 2019).