MITOCHONDRIAL MYOPATHY MAKING IT HARD TO SLEEP! OSA MANAGEMENT IN MITOCHONDRIAL MYOPATHY WITH A VARIANT IN SNAPC4 AND PURA GENES

Ugorji Okorie; Brittany Monceaux; Megan Smalley; Edmond Roberts; Cesar Liendo; Oleg Chernyshev

首页> 外文期刊>Sleep >MITOCHONDRIAL MYOPATHY MAKING IT HARD TO SLEEP! OSA MANAGEMENT IN MITOCHONDRIAL MYOPATHY WITH A VARIANT IN SNAPC4 AND PURA GENES

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MITOCHONDRIAL MYOPATHY MAKING IT HARD TO SLEEP! OSA MANAGEMENT IN MITOCHONDRIAL MYOPATHY WITH A VARIANT IN SNAPC4 AND PURA GENES

机译：线粒体肌病使其难以入睡！ OSA管理在线粒体肌病中，SNAPC4和PURA基因中的变体

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来源
《Sleep》 |2020年第1期|共2页
作者
Ugorji Okorie; Brittany Monceaux; Megan Smalley; Edmond Roberts; Cesar Liendo; Oleg Chernyshev;
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作者单位

Ochsner LSU Shreveport Shreveport LA 71130 USA;

Ochsner LSU Shreveport Shreveport LA 71130 USA;

Ochsner LSU Shreveport Shreveport LA 71130 USA;

Ochsner LSU Shreveport Shreveport LA 71130 USA;

Ochsner LSU Shreveport Shreveport LA 71130 USA;

Ochsner LSU Shreveport Shreveport LA 71130 USA;

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原文格式 PDF
正文语种 eng
中图分类人体生理学;
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专利

1. MITOCHONDRIAL MYOPATHY MAKING IT HARD TO SLEEP! OSA MANAGEMENT IN MITOCHONDRIAL MYOPATHY WITH A VARIANT IN SNAPC4 AND PURA GENES [J] . Ugorji Okorie, Brittany Monceaux, Megan Smalley, Sleep . 2020,第Suppla1期

机译：线粒体肌病使其难以入睡！ OSA管理在线粒体肌病中，SNAPC4和PURA基因中的变体
2. Homozygous variant in OTX2 OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment [J] . Catania Alessia, Legati Andrea, Peverelli Lorenzo, American journal of medical genetics, Part A . 2019,第5期

机译：OTX2 OTX2中的纯合变体以及脑垂体激素缺乏组合，眼部受累，肌病，共济失组和线粒体损伤的患者中鉴定的可能遗传改性剂
3. A novel mitochondrial m.4414T > C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy [J] . Hellebrekers Debby M. E. I., Blakely Emma L., Hendrickx Alexandra T. M., Neuromuscular disorders: NMD . 2019,第9期

机译：一种新型线粒体M.4414T> C MT-TM基因变体，导致进程外部眼镜术和肌病
4. NIR spectroscopic investigation of m. vastus lateralis in patients with mitochondrial myopathies as detected by respirometric investigation of mitochondrial function in skinned fibers [C] . Frank N. Gellerich, Martin-Luther-Univ. Halle-Wittenberg, Halle, Conference on photon propagation in tissues . 1998

机译：近红外光谱研究通过呼吸法研究皮肤纤维线粒体功能检测线粒体肌病患者的股外侧肌
5. Exercise training as therapy for mitochondrial myopathies: Physiological, biochemical and genetic effects [D] . Taivassalo, Tanja. 2001

机译：运动训练作为线粒体肌病的疗法：生理，生化和遗传作用
6. Comment on CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions [O] . Josef Finsterer 2020

机译：评论 CPGU和线粒体肌病的DGUOK复合杂合性致病变异和mtDNA多次缺失患者
7. A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy [O] . Debby M.E.I. Hellebrekers, Emma L. Blakely, Alexandra T.M. Hendrickx, 2019

机译：一种新型线粒体M.4414T> C MT-TM基因变体导致进步外部眼睑动脉杆菌和肌病

MITOCHONDRIAL MYOPATHY MAKING IT HARD TO SLEEP! OSA MANAGEMENT IN MITOCHONDRIAL MYOPATHY WITH A VARIANT IN SNAPC4 AND PURA GENES

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