End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants

Affiliations

• ¹ Division of Cardiovascular Medicine (N.S.W., S.B.P., A.T.O., J.P., N.R.), Perelman School of Medicine at the University of Pennsylvania.
• ² Department of Medicine, Division of Cardiovascular Surgery, Department of Surgery (M.C.), Perelman School of Medicine at the University of Pennsylvania.
• ³ Division of Translational Medicine and Human Genetics (C.C., T.G.D.), Perelman School of Medicine at the University of Pennsylvania.
• ⁴ Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA (A.G., J.T.P.).
• ⁵ Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia (I.T.R., M.P., P.L.).
• ⁶ Department of Genetics (T.G.D.), Perelman School of Medicine at the University of Pennsylvania.