Type 1B and MPZ mutations research

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Research from Muscle Nerve. 2004 Jun;29(6):867-9.

Clinical and genetic description of a family with Charcot-Marie-Tooth

disease type 1B from a transmembrane MPZ mutation.

Eggers SD, Keswani SC, Melli G, Cornblath DR.

Department of Neurology, s Hopkins University School of Medicine,

Baltimore, land, USA.

Mutations in the myelin protein zero gene (MPZ) are associated with

certain demyelinating neuropathies, and in particular with

Charcot-Marie-Tooth disease type 1B (CMT1B), Dejerine-Sottas syndrome,

and congenital hypomyelination. MPZ mutations affecting the protein's

transmembrane domain are generally associated with more severe

phenotypes. We describe a family with mild CMT1B associated with a

transmembrane MPZ mutation. Sequence analysis identified a G-to-C

transversion at nucleotide 1064, predicting a glycine-to-arginine

substitution in codon 163 (G163R) of MPZ. This report furthers the

understanding of the clinical and electrophysiological manifestations of

MPZ mutations.