New mutation of the MPZ gene with the Dejerine-Sottas disease phenotype

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Muscle Nerve. 2006 Dec 1

New mutation of the MPZ gene in a family with the Dejerine-Sottas

disease phenotype.

Floroskufi P, Panas M, Karadima G, Vassilopoulos D.

Neurogenetics Unit, Department of Neurology, Eginition Hospital,

University of Athens, 74 Vas. Sofias Ave., Athens 11528, Greece.

Charcot-Marie-Tooth disease type 1B is associated with mutations in

the myelin protein zero gene. In the present study a new myelin

protein zero gene mutation (c.89T>C,Ile30Thr) was detected in a family

with the Dejerine-Sottas disease phenotype. The results support the

hypothesis that severe, early-onset neuropathy may be related to

either an alteration of a conserved amino acid or a disruption of the

tertiary structure of myelin protein zero.