Biallelic <i>PTPMT1</i> variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
Micol Falabella(National Hospital for Neurology and Neurosurgery), Robert D. S. Pitceathly(National Hospital for Neurology and Neurosurgery), Michael G. Hanna(National Hospital for Neurology and Neurosurgery), William L. Macken(Princess Anne Hospital), Maha S. Zaki(National Research Centre), Simon Heales(National Hospital for Neurology and Neurosurgery), Rita Horváth(Wellcome Centre for Mitochondrial Research), Yavuz Oktay(Dokuz Eylül University), Luis Carlos Tabara(University of Cambridge), Nina Patel(Great Ormond Street Hospital), Jana Vandrovcová(National Hospital for Neurology and Neurosurgery), Julien Prudent(University of Cambridge), Charlotte L. Alston(Newcastle upon Tyne Hospitals NHS Foundation Trust), Hanns Lochmüller(Muscular Dystrophy UK), Shanti Lu(National Hospital for Neurology and Neurosurgery), Jan‐Willem Taanman(Queen Mary University of London), Ece Sönmezler(Dokuz Eylül University), Efstathia Chronopoulou(University Hospitals Bristol NHS Foundation Trust), Mohamed S. Abdel‐Hamid(National Research Centre), Henry Houlden(University College London), Robyn Labrum(National Hospital for Neurology and Neurosurgery), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Lisa Tilokani(University of Cambridge), Semra Hız Kurul(Dokuz Eylül University), Simon Pope(National Hospital for Neurology and Neurosurgery), Benjamin Munro(University of Cambridge), Dania B.H. Hammadi(Wellcome Centre for Mitochondrial Research), Cathy E. Woodward(University College London), Padraig J. Flannery(University College London), Robert W. Taylor(Newcastle upon Tyne Hospitals NHS Foundation Trust), Germaine Pierre(University Hospitals Bristol NHS Foundation Trust), Chiara Pizzamiglio(Health First)
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