Congenital myasthenic syndromes ; French experience

被引：2

作者：

Eymard, Bruno ^{[1
,2
,3
]}

Hantai, Daniel ^{[3
]}

Fournier, Emmanuel ^{[4
]}

Nicole, Sophie ^{[3
]}

Sternberg, Damien ^{[5
]}

Richard, Pascale ^{[5
]}

Fardeau, Michel ^{[2
]}

机构：

[1] Grp Hosp Pitie Salpetriere, Ctr Reference Pathol Neuromusculaire Paris Est, Paris, France

[2] Inst Myol, Paris, France

[3] UPMC, UMRS 975, Paris, France

[4] Grp Hosp Pitie Salpetriere, Dept Neurophysiol, Paris, France

[5] Grp Hosp Pitie Salpetriere, Dept Biochim Genet, Paris, France

来源：

BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE | 2014年 / 198卷 / 02期

关键词：

MYASTHENIC SYNDROMES; CONGENITAL; NEUROMUSCULAR JUNCTION; ACETYLCHOLINE; PLATE ACETYLCHOLINESTERASE DEFICIENCY; CHOLINE-ACETYLTRANSFERASE MUTATIONS; RECEPTOR DEFICIENCY; CLINICAL-FEATURES; COLQ; SUBUNIT; MUSK; AGRIN; LRP4;

D O I：

10.1016/S0001-4079(19)31341-X

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Congenital myasthenic syndromes (CMS) form a heterogeneous group of genetic diseases characterized by abnormal neuromuscular transmission. The associated muscular weakness is exacerbated by exertion and usually starts during infancy/childhood. In 2002 a national Congenital Myasthenic Syndromes Network was created in France, composed of neurologists, neuropediatricians, pathologists, molecular geneticists and neurobiologists. The network has now identified nearly 300 cases of CMS, as well as three new culprit genes. Based on our personal experience and data from the most recent studies, we describe the 18 principal culprit genes so far identified, along with diagnostic pitfalls, the disease course, prognosis and treatment. The underlying genetic defect remains to be identified in nearly half of CMS patients.

引用

页码：257 / 270

页数：14

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