Mild phenotype of

CHAT CMS case report congenital myasthenic syndrome mild phenotype

Journal

Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492

Informations de publication

Date de publication:
2024
Historique:
received: 20 08 2023
accepted: 02 01 2024
medline: 2 2 2024
pubmed: 2 2 2024
entrez: 2 2 2024
Statut: epublish

Résumé

Congenital myasthenic syndrome with episodic apnea is associated with pathogenic variants in the

Identifiants

pubmed: 38304750
doi: 10.3389/fped.2024.1280394
pmc: PMC10830679
doi:

Types de publication

Case Reports

Langues

eng

Pagination

1280394

Informations de copyright

© 2024 Murtazina, Borovikov, Marakhonov, Sharkov, Sharkova, Mirzoyan, Kulikova, Ganieva, Zabnenkova, Ryzhkova, Nikitin, Dadali and Kutsev.

Déclaration de conflit d'intérêts

AS is employed by Genomed Ltd., Russia. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Auteurs

Aysylu Murtazina (A)

Research Centre for Medical Genetics, Moscow, Russia.

Artem Borovikov (A)

Research Centre for Medical Genetics, Moscow, Russia.

Andrey Marakhonov (A)

Research Centre for Medical Genetics, Moscow, Russia.

Artem Sharkov (A)

Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow, Russia.
Genomed Ltd., Moscow, Russia.

Inna Sharkova (I)

Research Centre for Medical Genetics, Moscow, Russia.

Alena Mirzoyan (A)

Republican Research and Clinical Center of Neurology and Neurosurgery, Minsk, Belarus.

Sviatlana Kulikova (S)

Republican Research and Clinical Center of Neurology and Neurosurgery, Minsk, Belarus.

Ralina Ganieva (R)

Research Centre for Medical Genetics, Moscow, Russia.

Viktoriia Zabnenkova (V)

Research Centre for Medical Genetics, Moscow, Russia.

Oksana Ryzhkova (O)

Research Centre for Medical Genetics, Moscow, Russia.

Sergey Nikitin (S)

Research Centre for Medical Genetics, Moscow, Russia.

Elena Dadali (E)

Research Centre for Medical Genetics, Moscow, Russia.

Sergey Kutsev (S)

Research Centre for Medical Genetics, Moscow, Russia.

Classifications MeSH