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Brain. 2017 Oct 1;140(10):e65. doi: 10.1093/brain/awx222.

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

Author information

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.

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