Severe congenital myasthenic syndrome with novel variants in the <i>CHRND</i> gene-Reference-Cited by-同舟云学术

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Severe congenital myasthenic syndrome with novel variants in the CHRND gene

Published:2022-01 Issue:1 Volume:64 Page:
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatrics International

Author:

Kondo Hidehito¹^ORCID,Tsuji Yukiko²,Lee Tomoko³,Saito Yoshihiko⁴,Nishino Ichizo⁴^ORCID

Affiliation:

1. Department of Pediatrics and Neonatology Japanese Red Cross Kyoto Daiichi Hospital Kyoto City Japan

2. Department of Neurology Kyoto Prefectural University of Medicine Kyoto Japan

3. Department of Pediatrics Hyogo College of Medicine Nishinomiya Japan

4. Department of Neuromuscular Research National Center of Neurology and Psychiatry Kodaira Japan

Publisher

Wiley

Subject

Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ped.15342

Reference5 articles.

1. Congenital myasthenic syndromes

2. Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits

3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

4. Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms

5. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

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