A RARE HETEROPLASMIC tRNALeu(CUN) MUTATION PRESENTING WITH REFRACTORY SEIZURES AND MYOPATHY

Shroff Sheetal; Nakawah Mohammad; Pleitez Milvia; Rosenfield David; Simpson Ericka

首页> 外文期刊>Muscle and Nerve >A RARE HETEROPLASMIC tRNALeu(CUN) MUTATION PRESENTING WITH REFRACTORY SEIZURES AND MYOPATHY

【24h】

A RARE HETEROPLASMIC tRNALeu(CUN) MUTATION PRESENTING WITH REFRACTORY SEIZURES AND MYOPATHY

机译：难治性和肌病性的罕见异种tRNALeu（CUN）突变表达。

获取原文

获取原文并翻译 | 示例

获取外文期刊封面封底 >>

开具论文收录证明 >>

文献代查 >>

团队文献服务 >>

页面导航

著录项
引文网络
相似文献
相关主题

著录项

来源
《Muscle and Nerve》 |2015年第s2期|共1页
作者
Shroff Sheetal; Nakawah Mohammad; Pleitez Milvia; Rosenfield David; Simpson Ericka;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类人体生理学;
关键词

相似文献

外文文献
中文文献
专利

1. A RARE HETEROPLASMIC tRNALeu(CUN) MUTATION PRESENTING WITH REFRACTORY SEIZURES AND MYOPATHY [J] . Shroff Sheetal, Nakawah Mohammad, Pleitez Milvia, Muscle and Nerve . 2015,第S2期

机译：难治性和肌病性的罕见异种tRNALeu（CUN）突变表达。
2. Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect. [J] . Kirino Y, Yasukawa T, Marjavaara SK, Human Molecular Genetics . 2006,第6期

机译：携带G12300A突变的线粒体tRNALeu（CUN）中摆动修饰的获得抑制了MELAS分子缺陷。
3. Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect [J] . Yohei Kirino, Takehiro Yasukawa, Sanna K. Marjavaara, Human Molecular Genetics . 2006,第6期

机译：携带G12300A突变的线粒体tRNA Leu（CUN）中摆动修饰的获得抑制了MELAS分子缺陷
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. Mouse Models of Periodic Paralysis in Andersen Tawil Syndrome and Functional Studies of Novel Nav1.4 Mutations in Myotonia & Myopathy [D] . ?Elia, Nathaniel Curtis 2020

机译：安德森三伐综合征治疗术后瘫痪的小鼠模型和新型NAV1.4突变术中的肌疗法突变功能研究
6. The mitochondrial tRNAAla 5587TC and tRNALeu(CUN) 12280AG mutations may be associated with hypertension in a Chinese family [O] . Lin Lin, Peng Cui, Zhipeng Qiu, -1

机译：线粒体tRNAAla 5587T C和tRNALeu（CUN）12280A G突变可能与中国家庭的高血压有关
7. A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy [O] . K Fu 1996

机译：一种新的异质Trnaleu（CUN）MTDNA点突变在散发患者中，线粒体脑膜病变分离在骨骼肌中迅速分离，并表明治疗方法

A RARE HETEROPLASMIC tRNALeu(CUN) MUTATION PRESENTING WITH REFRACTORY SEIZURES AND MYOPATHY

著录项

引文网络

相似文献

相关主题

期刊订阅