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

作者：Piazza Selina; Baldinotti Fulvia; Fogli Antonella; Conidi Maria Elena; Michelucci Angela; Ienco Elena Caldarazzo; Mancuso Michelangelo; Simi Paolo; Siciliano Gabriele^*

来源：Neuromuscular Disorders, 2010, 20(12): 817-819.

DOI：10.1016/j.nmd.2010.08.003

• Peripheral neuropathy
• Charcot-Marie-Tooth disease
• Myelin Protein Zero
• New truncating mutation
• Phenotypic heterogeneity

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

• 出版日期2010-12