Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.
Bulgarian Muslim Roma
LGMD 2C/R5
gamma-sarcoglycanopathy
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
30 Aug 2024
30 Aug 2024
Historique:
received:
30
07
2024
revised:
13
08
2024
accepted:
22
08
2024
medline:
29
9
2024
pubmed:
28
9
2024
entrez:
28
9
2024
Statut:
epublish
Résumé
Sarcoglycanopathies are among the most frequent and severe forms of autosomal recessive forms of limb-girdle muscular dystrophies (LGMDs) with childhood onset. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the
Identifiants
pubmed: 39336735
pii: genes15091144
doi: 10.3390/genes15091144
pii:
doi:
Substances chimiques
Sarcoglycans
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Bulgarian National Science Fund, project B02/240, and European Union-NextGeneration EU, through the National Recovery and Resilience Plan of the Republic of Bulgaria, project No BG-RRP-2.004-0004-C01.
ID : project No BG-RRP-2.004-0004-C01.