Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients-Reference-Cited by-同舟云学术

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

Published:2017-11-30 Issue:1 Volume:265 Page:194-203
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

McMacken Grace^ORCID,Whittaker Roger G.,Evangelista Teresinha,Abicht Angela,Dusl Marina^ORCID,Lochmüller Hanns^ORCID

Funder

Association of British Neurologists

Guarantors of Brain

Wellcome Trust

Medical Research Council

European Union FP7

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/article/10.1007/s00415-017-8689-3/fulltext.html

Reference38 articles.

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2. Ohno K, Tsujino A, Brengman JM et al (2001) Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci USA 98:2017–2022. https://doi.org/10.1073/pnas.98.4.2017

3. Arredondo J, Lara M, Gospe SM et al (2015) Choline acetyltransferase mutations causing congenital myasthenic syndrome: molecular findings and genotype-phenotype correlations. Hum Mutat 36:881–893. https://doi.org/10.1002/humu.22823

4. Abicht A, Dusl M, Gallenmüller C et al (2012) Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat 33:1474–1484. https://doi.org/10.1002/humu.22130

5. O’Connor E, Töpf A, Müller JS et al (2016) Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. Brain 139:2143–2153. https://doi.org/10.1093/brain/aww130

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