Background and purpose: Charcot-Marie-Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant since the first years of life, remains fairly stable through the life and does not correlate with disability whereas compound muscular action potential (CMAP) amplitude does. The aim of...
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2016 (v1)PublicationUploaded on: April 14, 2023
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2019 (v1)Publication
Background Inherited peripheral neuropathies (IPNs) represent a broad group of genetically and clinically heterogeneous disorders, including axonal Charcot-Marie-Tooth type 2 (CMT2) and hereditary motor neuropathy (HMN). Approximately 60%–70% of cases with HMN/CMT2 still remain without a genetic diagnosis. Interestingly, mutations in HMN/CMT2...
Uploaded on: April 14, 2023 -
2006 (v1)Publication
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Uploaded on: April 14, 2023 -
2011 (v1)Publication
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Uploaded on: March 31, 2023