Expression assay of the
COLQ
congenital myasthenic syndrome
qRT‐PCR
symptomatic carriers
whole‐exome sequencing
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
received:
30
06
2023
revised:
20
08
2023
accepted:
04
10
2023
medline:
26
10
2023
pubmed:
26
10
2023
entrez:
26
10
2023
Statut:
epublish
Résumé
Congenital myasthenic syndromes-5 (CMS5) is a rare autosomal recessive heterogeneous disorder, caused by pathogenic variants in the
Identifiants
pubmed: 37881193
doi: 10.1002/ccr3.8062
pii: CCR38062
pmc: PMC10593973
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e8062Informations de copyright
© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
There is no conflict of interest.
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