Ekici A B, Fuchs C, Nelis E, Hillenbrand R, Schachner M, Van Broeckhoven C, Rautenstrauss B
Institute of Human Genetics, University of Erlangen-Neurnberg, Germany.
Genet Anal. 1998 Oct;14(4):117-9. doi: 10.1016/s1050-3862(98)00004-7.
Myelin protein zero (MPZ, P0) is well known as the adhesion molecule responsible for the compaction of the myelin sheath of peripheral nerves. Mutations are linked to Charcot-Marie-Tooth syndrome type 1B (CMT1B) and the more severe Dejerine-Sottas syndrome (DSS). Three mutations leading to phenotypes of increasing severity (Ser34del/CMT1B, Ser34Cys/DSS, INS663GC/DSS) were expressed in S2 insect cells and resulted in a decreased adhesion capability in correlation with their respective phenotypes.
