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

  • Brain. 2017 Oct 1;140(10):e65. doi: 10.1093/brain/awx222.
Mert Karakaya  1 ,  Neda Mazaheri  2  3 ,  Ipek Polat  4 ,  Diana Bharucha-Goebel  5  6 ,  Sandra Donkervoort  5 ,  Reza Maroofian  7  8 ,  Gholamreza Shariati  3  9 ,  Irmgard Hoelker  1 ,  Kristin Monaghan  10 ,  Sara Winchester  11 ,  Robert Zori  12 ,  Hamid Galehdari  2 ,  Carsten G Bönnemann  5 ,  Uluc Yis  4 ,  Brunhilde Wirth  1
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.
PMID: 28969388 DOI: 10.1093/brain/awx222