Abstract
The Charcot-Marie-Tooth (CMT) neuropathies divide into two main electrophysiological groups with slow and near normal conduction velocities corresponding to Schwann cell and axonal pathology. An intermediate group also exists with nerve conduction velocities, which overlaps the two main groups. Families with intermediate CMT can be recognized in which different affected individuals in the same family have motor conduction velocities in both the CMT type 1 and 2 ranges (i.e., above and below 38 m/s). The intermediate group is caused by a limited number of distinct gene mutations in dynamin2 (DNM2), gap-junction protein 1 (GJB1), neurofilament light polypeptide (NF-L) genes, and a rare mutation and as yet unknown genes on chromosome 1 and 10 loci. Intermediate forms of CMT may be associated with unique disease mechanisms affecting both Schwann cells and axons. It is useful to recognize this unique group of neuropathies for diagnostic and management purposes.
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