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Charcot‐Marie‐Tooth Disease Type 2
Author(s) -
VANCE JEFFERY M.
Publication year - 1999
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.1999.tb08565.x
Subject(s) - phenotype , axon , disease , neuroscience , neurology , genetic heterogeneity , cell type , biology , schwann cell , clinical phenotype , gene , medicine , genetics , cell , pathology , anatomy
No unique genes have yet been found for CMT2, but both Cx32 and P 0 appear to contribute to the phenotype. Not surprisingly, CMT2 is likely to display much more genetic heterogeneity than CMT1. However, it is also likely continue to challenge previous concepts on classification and relationship of traditional inherited phenotypes in neurology. Future work on CMT2 should produce insight not only into the cellular interactions of the peripheral nerve especially Schwann cell and axon relationships, but also into idiopathic neuropathy.