Proximal myopathy without episodic weakness in relation with a probable novel mutation of the CACNA1S gene

Moris G.; Martinez L.; Aurora A.; Alvarez V.

首页> 外文期刊>Neuromuscular disorders: NMD >Proximal myopathy without episodic weakness in relation with a probable novel mutation of the CACNA1S gene

【24h】

Proximal myopathy without episodic weakness in relation with a probable novel mutation of the CACNA1S gene

机译：近端的肌病，没有集中性弱化的缺陷与CaCNA1S基因的可能性新突变

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

著录项
相似文献
相关主题

著录项

来源
《Neuromuscular disorders: NMD》 |2017年第2期|共1页
作者
Moris G.; Martinez L.; Aurora A.; Alvarez V.;
展开▼
作者单位

SESPA Oviedo Spain;

SESPA Oviedo Spain;

SESPA Oviedo Spain;

SESPA Oviedo Spain;

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类神经病学;
关键词

相似文献

外文文献
中文文献
专利

1. Proximal myopathy without episodic weakness in relation with a probable novel mutation of the CACNA1S gene [J] . Moris G., Martinez L., Aurora A., Neuromuscular disorders: NMD . 2017,第Suppla2期

机译：近端的肌病，没有集中性弱化的缺陷与CaCNA1S基因的可能性新突变
2. Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation [J] . Huynh William, Davis Mark R. Muscle and Nerve . 2017,第1期

机译：面部弱点和眼睑皮瓣：从新型基因突变扩大伯格伦姆肌病的临床异质性
3. PLEC gene mutations cause familial disto-proximal myopathy and long QT syndrome mimicking mitochondrial disease [J] . Servidei S., Primiano G., Muto V., Neuromuscular disorders: NMD . 2017,第Suppla2期

机译：Plec基因突变引起家族性近似肌病和长QT综合征模仿线粒体疾病
4. A Mitochondrial Transporter SLC25A12 Gene Mutation Is Associated with Inflammatory Myopathy in Dutch Shepherd Dogs [C] . American College of Veterinary Internal Medicine Forum Conference . 2019

机译：线粒体转运蛋白SLC25A12基因突变与荷兰牧羊犬的炎症性肌病有关
5. In situ detection of transrenal gene mutations without DNA isolation and amplification using Array Piezoelectric Plate Sensor (PEPS) [D] . Kirimli, Ceyhun E. 2013

机译：使用阵列压电板传感器（PEPS）无需DNA分离和扩增即可原位检测跨肾基因突变
6. Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. [O] . P Nicolao, F Xiang, L G Gunnarsson, 1999

机译：具有近端无力和早期呼吸肌受累的常染色体显性肌病映射到染色体2q。
7. Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. [O] . Nicolao, P, Xiang, F, Gunnarsson, L G, 1999

机译：具有近端无力和早期呼吸肌受累的常染色体显性肌病映射到染色体2q。

Proximal myopathy without episodic weakness in relation with a probable novel mutation of the CACNA1S gene

著录项

相似文献

相关主题

期刊订阅