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Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease
2006
Neuromolecular medicine
The autosomal-dominant axonal peripheral neuropathies comprise a genetically heterogeneous group of disorders that are clinically subsumed under Charcot-Marie-Tooth disease type 2 (CMT2). A significant increase in the number of genes underlying major forms of CMT2 has improved the classification of specific CMT phenotypes. The molecular dissection of cellular functions of the related gene products has only begun and detailed pathophysiological models are still missing, but already the
doi:10.1385/nmm:8:1-2:63
pmid:16775367
fatcat:5vmirpxbq5ablftsmbmkgqxebi