A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant inLAMA5-Reference-Cited by-同舟云学术

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant inLAMA5

Published:2018-01-28 Issue:1 Volume:1413 Page:119-125
ISSN:0077-8923
Container-title:Annals of the New York Academy of Sciences
language:en
Short-container-title:Ann. N.Y. Acad. Sci.

Author:

Maselli Ricardo A.¹,Arredondo Juan¹,Vázquez Jessica¹,Chong Jessica X.²,Bamshad Michael J.²³⁴,Nickerson Deborah A.³,Lara Marian¹,Ng Fiona¹,Lo Victoria Lee¹,Pytel Peter⁵,McDonald Craig M.⁶

Affiliation:

1. Department of Neurology; University of California Davis; Sacramento California

2. Department of Pediatrics; University of Washington; Seattle Washington

3. Department of Genome Sciences; University of Washington; Seattle Washington

4. Division of Genetic Medicine; Seattle Children's Hospital; Seattle Washington

5. Department of Pathology; University of Chicago; Chicago Illinois

6. Department of Medicine and Rehabilitation; University of California Davis; Sacramento California

Funder

National Institutes of Health

Research Institute and the National Heart, Lung and Blood Institute

Publisher

Wiley

Subject

History and Philosophy of Science,General Biochemistry, Genetics and Molecular Biology,General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/nyas.13585/fullpdf

Reference29 articles.

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3. Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome;Maselli;J. Med. Genet.,2009

4. Congenital myasthenic syndrome type 19 is caused by mutations in COL13A1, encoding the atypical non-fibrillar collagen type XIII α1 chain;Logan;Am. J. Hum. Genet.,2015

5. A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release;Engel;Ann. Neurol.,1977

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