Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation

Affiliations

• 1 Institute of Human Genetics, Center for Molecular Medicine Cologne, Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
• 2 Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
• 3 Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran.
• 4 Dokuz Eylül University, Department of Pediatric Neurology, Izmir, Turkey.
• 5 Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA.
• 6 Division of Neurology, Children's National Health System, Washington, DC, USA.
• 7 Genetics and Molecular Cell Sciences Research Centre, St George's University of London, Cranmer, 16 Terrace, London, UK.
• 8 Medical Research, RILD Welcome Wolfson Centre, Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
• 9 Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
• 10 GeneDx, Gaithersburg, MD, USA.
• 11 Child Neurology Center of Northwest Florida, Pensacola, FL, USA.
• 12 Division of Genetics and Metabolism, University of Florida, Gainesville, FL, USA.