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

被引：3

作者：

Piazza, Selina ^{[1
]}

Baldinotti, Fulvia ^{[2
]}

Fogli, Antonella ^{[2
]}

Conidi, Maria Elena ^{[2
]}

Michelucci, Angela ^{[2
]}

Ienco, Elena Caldarazzo ^{[1
]}

Mancuso, Michelangelo ^{[1
]}

Simi, Paolo ^{[2
]}

Siciliano, Gabriele ^{[1
]}

机构：

[1] Univ Pisa, Dept Neurosci, Neurol Clin, I-56126 Pisa, Italy

[2] Mol Genet & Cytozenet AOUP, Pisa, Italy

来源：

NEUROMUSCULAR DISORDERS | 2010年 / 20卷 / 12期

关键词：

Peripheral neuropathy; Charcot-Marie-Tooth disease; Myelin Protein Zero; New truncating mutation; Phenotypic heterogeneity; MARIE-TOOTH-DISEASE; CONGENITAL HYPOMYELINATION; PROTEIN; GENE; NEUROPATHY; ADHESION; DOMAIN;

D O I：

10.1016/j.nmd.2010.08.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 (C) 2010 Elsevier B V All rights reserved

引用

页码：817 / 819

页数：3

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