Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome.

Outteryck O; Richard P; Lacour A

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Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome.

机译：肌肉乙酰胆碱受体的新型ε亚基突变导致慢通道先天性肌无力综合症。

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The slow-channel congenital myasthenic syndrome is a frequent kinetic anomaly of the acetylcholine receptor (AChR). We report a family with a slow-channel congenital myasthenic syndrome that carries a novel mutation in the subunit of the AChR (p.Val259Leu). The family presents the classical clinical phenotype of slow-channel syndrome with phenotypic variability among the different members of the family.

机译：慢通道先天性肌无力综合征是乙酰胆碱受体（AChR）的常见动力学异常。我们报告了一个家族的慢通道先天性肌无力综合征，该家族在AChR（p.Val259Leu）的亚基中携带一种新型突变。该家族介绍了慢通道综合症的典型临床表型，并在该家族的不同成员中表现出表型变异性。

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《Journal of Neurology, Neurosurgery and Psychiatry》 |2009年第4期|共2页
作者
Outteryck O; Richard P; Lacour A;
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正文语种 eng
中图分类神经病学与精神病学;
关键词
Adult; DNA Mutational Analysis; Electromyography; Family; Female; Humans; Male; Motor Neurons; Muscle; Skeletal; Myasthenic Syndromes; Congenital; Neural Conduction; Pedigree; Receptors; Cholinergic; Receptors; Nicotinic;

机译：成人;DNA突变分析;肌电图;家庭;女;人类;男性;运动神经元;肌肉;骨骼;肌无力综合征;先天性;神经传导;谱系;受体;胆碱能;受体;尼古丁;

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1. Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome. [J] . Outteryck O, Richard P, Lacour A Journal of Neurology, Neurosurgery and Psychiatry . 2009,第4期

机译：肌肉乙酰胆碱受体的新型ε亚基突变导致慢通道先天性肌无力综合症。
2. Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene. [J] . Ohno K, Anlar B, Engel AG Neuromuscular disorders: NMD . 1999,第3期

机译：先天性肌无力综合症是由乙酰胆碱受体ε亚基基因的启动子区域的Ets结合位点突变引起的。
3. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. [J] . Ohno K, Hutchinson DO, Milone M, Proceedings of the National Academy of Sciences of the United States of America . 1995,第3期

机译：先天性肌无力综合症是由延长的乙酰胆碱受体通道开放引起的，这是由于ε亚基的M2结构域发生突变引起的。
4. Gamma Subunits Expression of Junctional Acetylcholine Receptor of Paraspinal Muscles in Scoliosis Associated with Syringomyelia [C] . Zezhang ZHU, Yong QIU, WANG Bin International Research Society of Spinal Deformities . 2008

机译：伽马亚基表达肩胛骨脊柱肌脊柱菌脊柱菌的表达，与读数相关
5. Neoplastic epithelial cells express α-subunit of muscle nicotinic acetylcholine receptor in thymomas from patients with myasthenia gravis [D] . Hara, Yasuo 1991

机译：重症肌无力患者胸腺瘤中的肿瘤上皮细胞表达肌肉烟碱乙酰胆碱受体的α-亚基
6. A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family [O] . Jia-Ze Tan, Yuan Man, Fei Xiao 2016

机译：乙胆碱受体Epsilon亚基的错义突变导致常染色体显性慢慢先天性肌无力综合征在中国家庭。
7. A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family [O] . Jia-Ze Tan, Yuan Man, Fei Xiao 2016

机译：乙酰胆碱受体Epsilon亚基的错义突变导致中国家庭常染色体显性慢性先天性先天性肌无力综合征

Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome.

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