Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation
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DOI：
10.1212/01.wnl.0000201275.18875.ac
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发表时间：
2006-03-14
期刊：
影响因子：
9.9
通讯作者：
Comi, GP
中科院分区：
文献类型：
--
作者：
Del Bo, R;Locatelli, F;Comi, GP
本文报道了一个有四名成员的意大利多代家庭，该家系患有轴性Charcot-Marie-Tooth 2D型(CMT-2D)或远端脊髓性肌萎缩症(DSMA)表型，表现为上肢占优势、发病年龄可变、残疾程度和常染色体显性遗传。发现了一种新的杂合性错义GARS基因突变(D500N)。
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.