Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN-Reference-Cited by-同舟云学术

Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN

Published:2022-01 Issue:1 Volume:44 Page:50-55
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Saito Maki,Ogasawara Masashi,Inaba Yuji,Osawa Yoshihiro,Nishioka Makoto,Yamauchi Shoko,Atsumi Kana,Takeuchi Shihoko,Imai Ken,Motobayashi Mitsuo,Misawa Yuka,Iida Aritoshi,Nishino Ichizo

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference17 articles.

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4. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment;Engel;Lancet Neurol,2015

5. The postsynaptic 43K protein clusters muscle nicotinic acetylcholine receptors in Xenopus oocytes;Froehner;Neuron,1990

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