CONGENITAL MYASTHENIC SYNDROME MISDIAGNOSED AS SERONEGATIVE MYASTHENIA GRAVIS FOR A LIFETIME: A REPORT OF A NOVEL MUTATION IN CHRNE

Kassar Darine; Teleb Mohamed; Iyadurai Stanley

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CONGENITAL MYASTHENIC SYNDROME MISDIAGNOSED AS SERONEGATIVE MYASTHENIA GRAVIS FOR A LIFETIME: A REPORT OF A NOVEL MUTATION IN CHRNE

机译：先天性肌无力综合症被误诊为重症肌无力重症患者的一生：一种新的突变报告

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《Muscle and Nerve》 |2016年第3期|共1页
作者
Kassar Darine; Teleb Mohamed; Iyadurai Stanley;
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正文语种 eng
中图分类人体生理学;
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1. CONGENITAL MYASTHENIC SYNDROME MISDIAGNOSED AS SERONEGATIVE MYASTHENIA GRAVIS FOR A LIFETIME: A REPORT OF A NOVEL MUTATION IN CHRNE [J] . Kassar Darine, Teleb Mohamed, Iyadurai Stanley Muscle and Nerve . 2016,第3期

机译：先天性肌无力综合症被误诊为重症肌无力重症患者的一生：一种新的突变报告
2. Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. [J] . Brugnoni R, Maggi L, Canioni E, Journal of neurology . 2010,第7期

机译：在三名无关的意大利先天性肌无力综合症患者中，鉴定了先前未报告的CHRNA1，CHRNE和RAPSN基因突变。
3. Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes [J] . Raffaella Brugnoni, Lorenzo Maggi, Eleonora Canioni, Journal of Neurology . 2010,第7期

机译：在三名无关的意大利先天性肌无力综合症患者中鉴定CHRNA1，CHRNE和RAPSN基因先前未报告的突变
4. Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome [C] . Katsiaryna Belaya, Sarah Finlayson, Judith Cossins, International Conference on Myasthenia Gravis and Related Disorders . 2012

机译：鉴定DPAGT1作为突变引起先天性染发素综合征的新基因
5. CLINICAL, GENETIC AND MORPHOLOGICAL CHARACTERIZATION OF CONGENITAL MYASTHENIA GRAVIS IN THE SMOOTH FOX TERRIER (PATHOLOGY). [D] . MILLER, LISA MAAG. 1984

机译：先天性重症肌无力狗的临床，遗传和形态学特征（病理）。
6. A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report [O] . Thashi Chang, Judith Cossins, David Beeson 2016

机译：一名先天性肌无力综合征的南亚女性中乙酰胆碱受体CHRNE基因的罕见c.183_187dupCTCAC突变：病例报告
7. Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia. [O] . Salih MA, Oystreck DT, Al-Faky YH, 2011

机译：纯合子CHRNE突变引起的先天性肌无力综合征：阿拉伯患者的报告。

CONGENITAL MYASTHENIC SYNDROME MISDIAGNOSED AS SERONEGATIVE MYASTHENIA GRAVIS FOR A LIFETIME: A REPORT OF A NOVEL MUTATION IN CHRNE

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