A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.
CMS22
PREPL
splice site
spliceogenic
uniparental disomy
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
19 07 2020
19 07 2020
Historique:
received:
01
07
2020
revised:
15
07
2020
accepted:
17
07
2020
entrez:
26
7
2020
pubmed:
28
7
2020
medline:
18
3
2021
Statut:
epublish
Résumé
Congenital myasthenic syndrome-22 (CMS22, OMIM 616224) is a very rare recessive hereditary disorder. At the moment, ten CMS22 patients are described, with the disorder caused by nine different Loss-
Identifiants
pubmed: 32707643
pii: genes11070821
doi: 10.3390/genes11070821
pmc: PMC7397044
pii:
doi:
Substances chimiques
Codon, Nonsense
0
PREPL protein, human
EC 3.4.21.26
Prolyl Oligopeptidases
EC 3.4.21.26
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Références
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