Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy.

doi:10.1016/s0166-2236(97)01222-8

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Article

Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy.

Trends in neurosciences - 1 Jul 1998

Hanemann C O, Müller H W

Abstract excerpt

The hereditary neuropathy Charcot-Marie-Tooth (CMT) type 1A is, in the majority of cases, caused by duplication of the gene for the peripheral myelin protein PMP22, which leads to abnormally increased PMP22 expression. Recent in vitro and in vivo data indicate a novel function of PMP22 in Schwann...

Topics

Cell Differentiation
Charcot-Marie-Tooth Disease
Female
Gene Expression Regulation
Humans
Male
Multigene Family
Myelin P0 Protein
Myelin Proteins
Phenotype
Schwann Cells

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