Defining the CIAO1-related disease spectrum: clinical and molecular insights into a novel defect in cytoplasmic iron-sulfur cluster assembly

Author(s):

Rotem Or Bach, MD, National Institute of Neurological Disorders and Stroke (NINDS)/NIH, Reza Maroofian, PhD, University College London, Georg M. Stettner, MD, University Children's Hospital Zurich, Johanna Herwig, University Medical Center Hamburg-Eppendorf, Elena Pegoraro, PhD, University of Padova, Veronique Manel, University Hospitals of Lyon, Shams Ribault, University Hospitals of Lyon, Francoise Bouhour, MD, University Hospitals of Lyon, Ana Topf, PhD, John Walton Muscular Dystrophy Research Centre, Pinki Munot, MD, UCL Great Ormond Street Institute of Child Health, Khalid Hama Salih, Sulaimani University, Iraq, Nebal W. Saadi, University of Baghdad, Sumit Verma, MD, Emory University School of Medicine, Tracey Willis, MD, The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust, Oswestry, UK, Stojan Peric, MD, PhD, University Clinical Centre of Serbia, Deepa Krishnakumar, Cambridge University Hospitals NHS Foundation Trust, Judit Szamosújvári, Children's Hospital of Central Switzerland, Angela Petrosino, University of Padova, Luca Bello, MD, University of Padova, Theresia Herget, University Medical Center Hamburg-Eppendorf, Jessika Johannsen, University Medical Center Hamburg-Eppendorf, Juliane Mueller, UCL Great Ormond Street Institute of Child Health, Sniya Sudhakar, Great Ormond Street NHS Trust Hospital, A. Reghan Foley, MD, MD(Res), Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Svetlana Gorokhova, MD, PhD, NIH/NINDS/NNDCS, Caroline Sewry, UCL Great Ormond Street Institute of Child Health, Anna Sarkozy, MD, UCL Great Ormond Street Institute of Child Health, Tracey A. Rouault, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)/NIH, Henry Houlden, University College London, Carole Vuillerot, MD, Hôpital Mère Enfant, Nathalie Streichenberger, Université Claude Bernard Lyon, Sandra Donkervoort, MS, Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Healt, Volker Straub, MD, PhD, John Walton Muscular Dystrophy Research Centre, Francesco Muntoni, MD, Dubowitz Neuromuscular Centre, UCL and Great Ormond Street Hospital Trust, London, UK, Nunziata Maio, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)/NIH, Carsten G. Bönnemann, MD, habil., Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health