Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation

被引：53

作者：

Del Bo, R

Locatelli, F

Corti, S

Scarlato, M

Ghezzi, S

Prelle, A

Fagiolari, G

Moggio, M

Carpo, M

Bresolin, N

Comi, GP

机构：

[1] Univ Milan, Osped Maggiore Policlin, Dept Neurol Sci, IRCCS,Dino Ferrari Ctr,Mangiagalli & Regina Elena, I-20122 Milan, Italy

[2] IRCCS Eugenio Medea, La Nostra FAmiglia, Bosisio Parini, Italy

来源：

NEUROLOGY | 2006年 / 66卷 / 05期

关键词：

D O I：

10.1212/01.wnl.0000201275.18875.ac

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

An Italian multigenerational family with four members affected by an axonal Charcot-Marie-Tooth type 2D (CMT-2D) or distal spinal muscular atrophy (dSMA) phenotype with upper limb predominance, variable age at onset, degree of disability, and autosomal dominant inheritance is reported. A novel heterozygous missense GARS gene mutation (D500N) was identified.

引用

页码：752 / 754

页数：3

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