TY - JOUR AU - Braathen, Geir J. AU - Sand, Jette C. AU - Russell, Michael B. PY - 2010 DA - 2010/04/12 TI - Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome JO - BMC Research Notes SP - 99 VL - 3 IS - 1 AB - The Charcot-Marie-Tooth (CMT) phenotype caused by mutation in the myelin protein zero (MPZ) gene varies considerably, from early onset and severe forms to late onset and milder forms. The mechanism is not well understood. The myelin protein zero (P0) mediates adhesion in the spiral wraps of the Schwann cell's myelin sheath. The crystalline structure of the extracellular domain of the myelin protein zero (P0ex) is known, while the transmembrane and intracellular structure is unknown. SN - 1756-0500 UR - https://doi.org/10.1186/1756-0500-3-99 DO - 10.1186/1756-0500-3-99 ID - Braathen2010 ER -