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• W2004991520 abstract "Genetic studies have provided significant insights towards understanding inherited neurological diseases. As the most common inherited neuromuscular disorder, Charcot-Marie-Tooth disease (CMT) is a prime example of how the identification during the past 20 years of underlying genetic mutations in patients and their families has led to the realization that we can no longer regard CMT as a single disease but rather a collection of hereditary peripheral neuropathies resulting from pathogenic mutations in more than 40 distinct genes (http//www.molgen.ua.ac.be/CMTMutations/Mutations/MutByGene.cfm). It is no surprise therefore that diagnostic whole-genome sequencing methods were first applied to patients with CMT (Lupski et al ., 2010; Montenegro et al ., 2011).With this wealth of genetic information, a key question is whether all the pathogenic mutations associated with CMT lead to disease by mechanisms converging on a limited number of dysfunctional pathways, or, alternatively, does each genetic mutation lead to peripheral nerve degeneration by a distinct mechanism? The answer will have obvious implications as we attempt to develop effective treatments. Moreover, these questions highlight the fact that the identification of each genetic mutation is only the first step in deciphering molecular mechanisms that fail at the protein and cellular level in patients with CMT.The classification of CMT into ‘demyelinating’ and ‘axonal’ forms, reflecting the presumed main site of pathology, i.e. the Schwann cell or axon, respectively, has proved useful in terms of targeted genetic testing (Reilly et al. , 2011). Although most genes associated with axonal CMT are yet to be identified, many of those mutated in the demyelinating forms are known. Because of the role of the Schwann cells in axon myelination, it is no surprise that among the genes identified as being …" @default.
• W2004991520 created "2016-06-24" @default.
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• W2004991520 date "2012-12-01" @default.
• W2004991520 modified "2023-09-25" @default.
• W2004991520 title "The Charcot-Marie-Tooth diseases: how can we identify and develop novel therapeutic targets?" @default.
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• W2004991520 doi "https://doi.org/10.1093/brain/aws311" @default.
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