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Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges
Nature Reviews Neurology, 2019M. Pipis +3 more
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Connexin mutations in X-linked Charcot-Marie-Tooth disease.
Science, 1993J. Bergoffen +9 more
semanticscholar +1 more source
2017
Charcot-Marie-Tooth (CMT) disease is the most common hereditary motor and sensory neuropathic disorder. While several subtypes and inheritance patterns have been identified, the majority of cases demonstrate an autosomal dominant inheritance pattern. The pathophysiologic hallmarks of the disorder include its early and symmetric presentation involving ...
Matthew A. Varacallo +4 more
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Charcot-Marie-Tooth (CMT) disease is the most common hereditary motor and sensory neuropathic disorder. While several subtypes and inheritance patterns have been identified, the majority of cases demonstrate an autosomal dominant inheritance pattern. The pathophysiologic hallmarks of the disorder include its early and symmetric presentation involving ...
Matthew A. Varacallo +4 more
openaire +1 more source
Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease
Clinical Genetics, 1974H. Skre
semanticscholar +1 more source
1996
The incidence of Charcot—Marie—Tooth disease is undetermined, but it is estimated that around 130 000 Europeans are affected. There are a number of variations of Charcot—Marie—Tooth disease in which deafness and kidney disease are more apparent, and these variations are thought probably to be more common than Charcot—Marie—Tooth without these aspects ...
openaire +1 more source
The incidence of Charcot—Marie—Tooth disease is undetermined, but it is estimated that around 130 000 Europeans are affected. There are a number of variations of Charcot—Marie—Tooth disease in which deafness and kidney disease are more apparent, and these variations are thought probably to be more common than Charcot—Marie—Tooth without these aspects ...
openaire +1 more source
New developments in Charcot–Marie–Tooth neuropathy and related diseases
Current Opinion in Neurology, 2017D. Pareyson, P. Saveri, C. Pisciotta
semanticscholar +1 more source