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- W1990657506 abstract "Charcot-Marie-Tooth disease type 1A (CMT1A), the most frequent form of CMT, is caused by a 1.5 Mb duplication on the short arm of chromosome 17. Patients with CMT1A typically have slowed nerve conduction velocities (NCVs), reduced compound motor and sensory nerve action potentials (CMAPs and SNAPs), distal weakness, sensory loss and decreased reflexes. In order to understand further the molecular pathogenesis of CMT1A, as well as to determine which features correlate with neurological dysfunction and might thus be amenable to treatment, we evaluated the clinical and electrophysiological phenotype in 42 patients with CMT1A. In these patients, muscle weakness, CMAP amplitudes and motor unit number estimates correlated with clinical disability, while motor NCV did not. In addition, loss of joint position sense and reduction in SNAP amplitudes also correlated with clinical disability, while sensory NCV did not. Taken together, these data strongly support the hypothesis that neurological dysfunction and clinical disability in CMT1A are caused by loss or damage to large calibre motor and sensory axons. Therapeutic approaches to ameliorate disability in CMT1A, as in amyotrophic lateral sclerosis and other neurodegenerative diseases, should thus be directed towards preventing axonal degeneration and/or promoting axonal regeneration." @default.
- W1990657506 created "2016-06-24" @default.
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- W1990657506 date "2000-07-01" @default.
- W1990657506 modified "2023-10-18" @default.
- W1990657506 title "Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A" @default.
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- W1990657506 cites W1529011174 @default.
- W1990657506 cites W1569685177 @default.
- W1990657506 cites W1883795482 @default.
- W1990657506 cites W1946301207 @default.
- W1990657506 cites W1970981217 @default.
- W1990657506 cites W1973224467 @default.
- W1990657506 cites W1976857475 @default.
- W1990657506 cites W1982647438 @default.
- W1990657506 cites W1984684782 @default.
- W1990657506 cites W1986627927 @default.
- W1990657506 cites W1989705791 @default.
- W1990657506 cites W1991301174 @default.
- W1990657506 cites W1993809020 @default.
- W1990657506 cites W1995805628 @default.
- W1990657506 cites W1998455368 @default.
- W1990657506 cites W2013207654 @default.
- W1990657506 cites W2013422696 @default.
- W1990657506 cites W2013816543 @default.
- W1990657506 cites W2015139168 @default.
- W1990657506 cites W2019978409 @default.
- W1990657506 cites W2021054927 @default.
- W1990657506 cites W2021224039 @default.
- W1990657506 cites W2028122645 @default.
- W1990657506 cites W2032985825 @default.
- W1990657506 cites W2033453485 @default.
- W1990657506 cites W2037089513 @default.
- W1990657506 cites W2037610799 @default.
- W1990657506 cites W2040710163 @default.
- W1990657506 cites W2043405821 @default.
- W1990657506 cites W2051682738 @default.
- W1990657506 cites W2054400348 @default.
- W1990657506 cites W2059889103 @default.
- W1990657506 cites W2061794885 @default.
- W1990657506 cites W2063382761 @default.
- W1990657506 cites W2064713079 @default.
- W1990657506 cites W2068320692 @default.
- W1990657506 cites W2070024141 @default.
- W1990657506 cites W2075206350 @default.
- W1990657506 cites W2080828112 @default.
- W1990657506 cites W2081914453 @default.
- W1990657506 cites W2082995803 @default.
- W1990657506 cites W2083588300 @default.
- W1990657506 cites W2086928144 @default.
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- W1990657506 cites W2088088770 @default.
- W1990657506 cites W2102557126 @default.
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- W1990657506 doi "https://doi.org/10.1093/brain/123.7.1516" @default.
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