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| DOI | 10.1016/j.braindev.2007.07.010 |
| Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis | |
| Malandrini, Alessandro1; Gambelli, Simona1; Muglia, Maria2; Berti, Gianna1; Gaudiano, Carmen1; Patitucci, Alessandra2; Sugie, Kazuma3; Umehara, Fujio5; Quattrone, Aldo2,4; Dotti, Maria Teresa1; Federico, Antonio1 | |
| 通讯作者 | Malandrini, Alessandro |
| 来源期刊 | BRAIN & DEVELOPMENT
 |
| ISSN | 0387-7604 |
| 出版年 | 2008 |
| 卷号 | 30期号:4页码:291-294 |
| 英文摘要 | We report a 36-year-old patient with 46XY pure gonadal dysgenesis (GD), who manifested a syndrome of progressive motor-sensory neuropathy. Sural nerve biopsy showed severe axonal neuropathy. Since reported cases of chronic motor-sensory neuropathy and pure gonadal dysgenesis have been characterized by nerve biopsy evidence of minifascicle formation, we suggest that this clinical association may be a new type of hereditary motor-sensory neuropathy, not necessarily associated with minifascicle formation. (c) 2007 Elsevier B.V. All rights reserved. |
| 英文关键词 | motor-sensory neuropathy nerve biopsy minifascicle formation gonadal dysgenesis 46XY karyotype molecular analysis DHH gene |
| 类型 | Article |
| 语种 | 英语 |
| 国家 | Italy ; Japan |
| 收录类别 | SCI-E |
| WOS记录号 | WOS:000254674900009 |
| WOS关键词 | DESERT-HEDGEHOG ; MUTATION ; GENE |
| WOS类目 | Clinical Neurology |
| WOS研究方向 | Neurosciences & Neurology |
| 资源类型 | 期刊论文 |
| 条目标识符 | http://119.78.100.177/qdio/handle/2XILL650/156737 |
| 作者单位 | 1.Univ Siena, Dept Neurol & Behav Sci, Unit Neurometab Dis, I-53100 Siena, Italy; 2.Inst Neurol Sci, Natl Res Council, Cosenza, Italy; 3.Nara Med Univ, Dept Neurol, Nara, Japan; 4.Univ Magna Grecia, Inst Neurol, Catanzaro, Italy; 5.Kagoshima Univ, Sch Med, Dept Internal Med 3, Kagoshima 890, Japan |
| 推荐引用方式 GB/T 7714 | Malandrini, Alessandro,Gambelli, Simona,Muglia, Maria,et al. Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis[J],2008,30(4):291-294. |
| APA | Malandrini, Alessandro.,Gambelli, Simona.,Muglia, Maria.,Berti, Gianna.,Gaudiano, Carmen.,...&Federico, Antonio.(2008).Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis.BRAIN & DEVELOPMENT,30(4),291-294. |
| MLA | Malandrini, Alessandro,et al."Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis".BRAIN & DEVELOPMENT 30.4(2008):291-294. |
| 条目包含的文件 | 条目无相关文件。 | |||||
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