The most common subtype of CMT is CMT type 1A (CMT1A), an autosomal dominant demyelinating form of CMT caused by a uniform 1.5 Mb tandem duplication on chromosome 17p. While most CMT conditions are autosomal dominant, some CMT cases are inherited in X-linked or autosomal recessive forms, known as CMTX and CMT4 respectively. Based on patients’ nerve conduction velocity (NCV), CMT is divided into several subgroups: demyelinating type (CMT1) with slowed NCV, axonal type (CMT2) with normal NCV but reduced amplitude of conduction, and intermediate type (CMTi) with NCV in the medium range.
So far over 90 genes have been implicated in the disease, and all Mendelian inheritance patterns have been reported. CMT is both clinically and genetically heterogeneous. As the most common inherited neurological disorder, CMT has an estimated prevalence of 1 in 2,500 worldwide.
201-211, 2019Ĭharcot-Marie-Tooth disease (CMT) is a group of inherited neuropathies that affect peripheral motor and/or sensory nerves in human. Journal: Journal of Neuromuscular Diseases, vol. Keywords: Charcot-marie-tooth disease, type 1a genome-wide association study modifier gene single nucleotide polymorphism Note: These authors contributed equally to this work. | MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UKĬorrespondence to: Stephan Züchner, MD, PhD, University of Miami Miller School of Medicine, Biomedical Research Building (BRB), Room 616, LC: M 860, 1501 NW 10th Avenue, Miami, FL 33136, USA. | Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA | Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea | Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy | Division of Neurology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA | Department of Neurology, Wayne State University School of Medicine, Detroit, MI, USA | Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA | Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA | Department of Neurology, Stanford University, Palo Alto, CA, USA | Department of Neurology, University of Rochester, Rochester, NY, USA | Department of Neurology, University of Miami, Miami, FL, USA | Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands | Department of Neurology, University of Iowa, Iowa City, IA, USA | Data Management and Coordinating Center, Rare Diseases Clinical Research Network, Pediatrics Epidemiology Center, University of South Florida, Tampa, FL, USA | Department of Comparative Biosciences and Waisman Center, University of Wisconsin, Madison, WI, USA d 1 | Züchner, Stephan a 1 * | the Inherited Neuropathy ConsortiumĪffiliations: Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA l | Taroni, Franco m | Baas, Frank n | Choi, Byung-Ok o | Pareyson, Davide m | Scherer, Steven S. c | Wu, Xingyao d | Feely, Shawna d | Verhamme, Camiel e | Saporta, Mario A. b | Lopez-Anido, Camila b | Svaren, John b | Abreu, Lisa a | Rizzo, Devon c | Kirk, Callyn A. Authors: Tao, Feifei a | Beecham, Gary W.
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