Format

Send to

Choose Destination
Muscle Nerve. 2007 May;35(5):667-9.

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

Author information

1
Neurogenetics Unit, Department of Neurology, Eginition Hospital, University of Athens, 74 Vas. Sofias Ave., Athens 11528, Greece.

Abstract

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.

PMID:
17143884
DOI:
10.1002/mus.20703
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center