CMT 1B: A new truncating MPZ mutation associated with a very mild CMT1 B phenoty

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Neuromuscul Disord. 2010 Sep 16

A new truncating MPZ mutation associated with a very mild CMT1 B phenotype.

Piazza S, Baldinotti F, Fogli A, Conidi ME, Michelucci A, Ienco EC, Mancuso M,

Simi P, Siciliano G.

Department of Neuroscience, Neurological Clinic, Pisa, Italy.

Abstract

We have investigated a 34-year-old female who had mild clinical and

electrophysiological features of demyelinating peripheral neuropathy. She

presented a novel frameshift mutation (V160fsX3) in the exon 4 of the Myelin

Protein Zero (MPZ) gene. Clinical and genetic studies performed on her family

revealed the same mutation in her oligosymptomatic mother and sister. Our report

expands the number of MPZ mutations and indicates that mutations in exon 4 may

cause a mild Charcot-Marie-Tooth type 1B phenotype.