Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
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DOI：
10.1038/75542
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发表时间：
2000-05-01
期刊：
影响因子：
30.8
通讯作者：
Monaco, AP
中科院分区：
文献类型：
--
作者：
Bolino, A;Muglia, M;Monaco, AP
腓骨肌萎缩症4 B型（CMT 4 B）是一种伴有髓鞘外折叠的常染色体隐性脱髓鞘性神经病，其突变基因已定位于染色体11 q22。使用定位克隆的策略，我们确定在无关的CMT 4 B患者突变发生在基因MTMR 2，编码肌微管蛋白相关蛋白-2，双特异性磷酸酶（DSP）。
A gene mutated in Charcot-Marie-Tooth disease type 4B (CMT4B), an autosomal recessive demyelinating neuropathy with myelin outfoldings, has been mapped on chromosome 11q22. Using a positional-cloning strategy, we identified in unrelated CMT4B patients mutations occurring in the gene MTMR2, encoding myotubularin-related protein-2, a dual specificity phosphatase (DSP).