Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

Autor: Osborn DPS; Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London SW17 0RE, UK., Pond HL; Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Science, Washington, DC 20037, USA., Mazaheri N; Department of Genetics, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz 6155689467, Iran., Dejardin J; Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London SW17 0RE, UK., Munn CJ; Department of Cellular and Molecular Physiology, Institute of Translational Medicine, University of Liverpool, Liverpool L69 3BX, UK., Mushref K; Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Science, Washington, DC 20037, USA., Cauley ES; Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Science, Washington, DC 20037, USA., Moroni I; Pediatric Neurology Unit, Fondazione IRCCS Istituto Neurologico C. Besta, 20133 Milan, Italy., Pasanisi MB; Pediatric Neurology Unit, Fondazione IRCCS Istituto Neurologico C. Besta, 20133 Milan, Italy; Division of Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico C. Besta, 20126 Milan, Italy., Sellars EA; Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR 72202, USA., Hill RS; Program in Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA., Partlow JN; Program in Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA., Willaert RK; GeneDX, Gaithersburg, MD 20877, USA., Bharj J; Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London SW17 0RE, UK., Malamiri RA; Department of Paediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6163764648, Iran., Galehdari H; Department of Genetics, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz 6155689467, Iran., Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz 6155689467, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur, University of Medical Sciences, Ahvaz 6135715794, Iran., Maroofian R; Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London SW17 0RE, UK; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter EX1 2LU, UK., Mora M; Division of Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico C. Besta, 20126 Milan, Italy., Swan LE; Department of Cellular and Molecular Physiology, Institute of Translational Medicine, University of Liverpool, Liverpool L69 3BX, UK., Voit T; NIHR GOSH Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Conti FJ; NIHR GOSH Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Jamshidi Y; Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London SW17 0RE, UK. Electronic address: yjamshid@sgul.ac.uk., Manzini MC; Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Science, Washington, DC 20037, USA. Electronic address: cmanzini@gwu.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2017 Mar 02; Vol. 100 (3), pp. 537-545. Date of Electronic Publication: 2017 Feb 09.