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

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Volume 20, Issue 12, Pages 817-819 (December 2010)

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

Selina Piazzaa, Fulvia Baldinottib, Antonella Foglib, Elena Conidib,

Micheluccib, Elena Caldarazzo Iencoa, Michelangelo Mancusoa, Paolo Simib,

e Sicilianoa

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.