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.