Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy.

Abstract excerpt

Charcot-Marie-Tooth disease type 1 (CMT1) is caused by mutations in the peripheral myelin protein, 22 kDa (PMP22) gene, protein zero (P0) gene, early growth response gene 2 (EGR-2) and connexin-32 gene, which are expressed in Schwann cells, the myelinating cells of the peripheral nervous system. Although the clinical and pathological phenotypes of the various forms of CMT1 are similar, including distal muscle...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Charcot-Marie-Tooth Disease
• Share to DNA (Cytosine-5-)-Methyltransferases