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Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.

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第一作者： Nivedita U,Jerath

第一单位： Department of Neurology, University of Iowa Carver College of Medicine, 200 Hawkins Drive Iowa City, Iowa, 52242, USA.;Department of Neurology, University of Florida, PO Box 100236 Gainesville, FL, 32610.

作者： Nivedita U,Jerath ^[1] ; Ami,Mankodi ^[2] ; Thomas O,Crawford ^[3] ; Christopher,Grunseich ^[2] ; Hasna,Baloui ^[4] ; Chioma,Nnamdi-Emeratom ^[2] ; Alice B,Schindler ^[2] ; Terry,Heiman-Patterson ^[5] ; Roman,Chrast ^[4] ; Michael E,Shy ^[6]

作者单位： Department of Neurology, University of Iowa Carver College of Medicine, 200 Hawkins Drive Iowa City, Iowa, 52242, USA.;Department of Neurology, University of Florida, PO Box 100236 Gainesville, FL, 32610. ^[1] Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. ^[2] Department of Pediatric Neurology, Johns Hopkins University, Baltimore, Maryland, USA. ^[3] Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.;Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. ^[4] Department of Neurology, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA. ^[5] Department of Neurology, University of Iowa Carver College of Medicine, 200 Hawkins Drive Iowa City, Iowa, 52242, USA. ^[6]

关键词 CMT4C Charcot-Marie Tooth disease SH3TC2 autosomal recessive hereditary motor and sensory neuropathy