Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7-Reference-Cited by-同舟云学术

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

Published:2009-12-11 Issue:5 Volume:257 Page:754-766
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Ben Ammar A.,Petit F.,Alexandri N.,Gaudon K.,Bauché S.,Rouche A.,Gras D.,Fournier E.,Koenig J.,Stojkovic T.,Lacour A.,Petiot P.,Zagnoli F.,Viollet L.,Pellegrini N.,Orlikowski D.,Lazaro L.,Ferrer X.,Stoltenburg G.,Paturneau-Jouas M.,Hentati F.,Fardeau M.,Sternberg D.,Hantaï D.,Richard P.,Eymard B.

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-009-5405-y.pdf

Reference23 articles.

1. Müller JS, Mihaylova V, Abicht A, Lochmüller H (2007) Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission. Expert Rev Mol Med 9:1–20

2. Engel AG, Shen XM, Selcen D, Sine SM (2009) What have we learned from the congenital myasthenic syndromes. J Mol Neurosci [Epub ahead of print]

3. Maselli RA, Ng JJ, Anderson JA, Cagney O, Arredondo J, Williams C, Wessel HB, Abdel-Hamid H, Wollmann RL (2009) Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. J Med Genet 46:203–208

4. Huzé C, Bauché S, Richard P, Chevessier F, Goillot E, Gaudon K, Ben Ammar A, Chaboud A, Grosjean I, Lecuyer HA, Bernard V, Rouche A, Alexandri N, Kuntzer T, Fardeau M, Fournier E, Brancaccio A, Rüegg MA, Koenig J, Eymard B, Schaeffer L, Hantaï D (2009) Identification of a mutation in agrin that causes congenital myasthenia and affects synapse function. Am J Hum Genet 85:1–13

5. Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Müller JS, Lochmüller H, Slater C, Vincent A, Yamanashi Y (2006) Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 313:1975–1978

Cited by 71 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. DOK7 congenital myasthenic syndrome: case series and review of literature;BMC Neurology;2024-06-21

2. Clinical and molecular analysis of a novel variant responsive to salbutamol monotherapy during COVID-19 outbreak related to congenital and late-onset of myasthenic syndrome in large kindred;2024-05-09

3. The Importance of Early Treatment of Inherited Neuromuscular Conditions;Journal of Neuromuscular Diseases;2024-03-05

4. Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures;Clinical Genetics;2024-01-26

5. Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population;Scientific Reports;2023-12-06