Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies.
Brain volume asymmetry
Dysferlin
Inferior lateral ventricles
Magnesium
Magnetic resonance
Miyoshi myopathy/dysferlinopathy
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
20 08 2024
20 08 2024
Historique:
received:
06
02
2024
accepted:
12
08
2024
medline:
21
8
2024
pubmed:
21
8
2024
entrez:
20
8
2024
Statut:
epublish
Résumé
Miyoshi myopathy/dysferlinopathy (MMD) is a rare muscle disease caused by DYSF gene mutations. Apart from skeletal muscles, DYSF is also expressed in the brain. However, the impact of MMD-causing DYSF variants on brain structure and function remains unexplored. To investigate this, we utilized magnetic resonance (MR) modalities (MR volumetry and
Identifiants
pubmed: 39164335
doi: 10.1038/s41598-024-69966-4
pii: 10.1038/s41598-024-69966-4
doi:
Substances chimiques
Magnesium
I38ZP9992A
Dysferlin
0
DYSF protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
19267Subventions
Organisme : Agentúra na Podporu Výskumu a Vývoja
ID : APVV-SK-AT-20-0010
Organisme : Agentúra na Podporu Výskumu a Vývoja
ID : APVV-19-0222
Organisme : Austrian Federal Ministry of Education, Science and Research
ID : WTZ Mobility SK11-2021
Informations de copyright
© 2024. The Author(s).
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