Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.
RYR1
central core disease
clinical heterogeneity
electromyography
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
26 04 2022
26 04 2022
Historique:
received:
23
03
2022
revised:
20
04
2022
accepted:
24
04
2022
entrez:
28
5
2022
pubmed:
29
5
2022
medline:
1
6
2022
Statut:
epublish
Résumé
Central Core Disease (CCD) is a genetic neuromuscular disorder characterized by the presence of cores in muscle biopsy. The inheritance has been described as predominantly autosomal dominant (AD), and the disease may present as severe neonatal or mild adult forms. Here we report clinical and molecular data on a large cohort of Brazilian CCD patients, including a retrospective clinical analysis and molecular screening for
Identifiants
pubmed: 35627144
pii: genes13050760
doi: 10.3390/genes13050760
pmc: PMC9141459
pii:
doi:
Substances chimiques
Ryanodine Receptor Calcium Release Channel
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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