Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.

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第一作者： Elena,Perli

第一单位： Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Policlinico Umberto I, Viale Regina Elena 324, 00161, Rome, Italy.

作者： Elena,Perli ^[1] ; Annalinda,Pisano ^[1] ; Ruth I C,Glasgow ^[2] ; Miriam,Carbo ^[3] ; Steven A,Hardy ^[2] ; Gavin,Falkous ^[2] ; Langping,He ^[2] ; Bruna,Cerbelli ^[1] ; Maria Gemma,Pignataro ^[1] ; Elisabetta,Zacara ^[4] ; Federica,Re ^[4] ; Paola Lilla,Della Monica ^[5] ; Veronica,Morea ^[6] ; Penelope E,Bonnen ^[7] ; Robert W,Taylor ^[2] ; Giulia,d'Amati ^[1] ; Carla,Giordano ^[8]

作者单位： Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Policlinico Umberto I, Viale Regina Elena 324, 00161, Rome, Italy. ^[1] Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. ^[2] Department of Biochemical Sciences "A. Rossi Fanelli", Sapienza University of Rome, P.le Aldo Moro 5, 00185, Rome, Italy. ^[3] Cardiomyopathies Unit, Division of Cardiology and Cardiac Arrhythmias, San Camillo-Forlanini Hospital, Rome, Italy. ^[4] Department of Cardiac Surgery and Transplantation, San Camillo-Forlanini Hospital, Rome, Italy. ^[5] National Research Council of Italy, Institute of Molecular Biology and Pathology c/o Department of Biochemical Sciences "A. Rossi Fanelli", Sapienza University of Rome, P.le Aldo Moro 5, 00185, Rome, Italy. ^[6] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. ^[7] Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Policlinico Umberto I, Viale Regina Elena 324, 00161, Rome, Italy. carla.giordano@uniroma1.it. ^[8]