Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation.
Dystroglycanopathy
FKRP
LGMDR9
limb girdle muscular dystrophy
α-Dystroglycan
Journal
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
ISSN: 2532-1900
Titre abrégé: Acta Myol
Pays: Italy
ID NLM: 9811169
Informations de publication
Date de publication:
2023
2023
Historique:
received:
14
11
2023
accepted:
19
12
2023
medline:
26
2
2024
pubmed:
26
2
2024
entrez:
26
2
2024
Statut:
epublish
Résumé
Fukutin-related protein (FKRP) mutations cause a broad spectrum of muscular dystrophies, from a relatively mild limb-girdle muscular dystrophy type 9 (LGMDR9) to severe congenital muscular dystrophy (CMD). This study aims to report two siblings belonging to a non-consanguineous Tunisian family harboring a novel compound heterozygous
Identifiants
pubmed: 38406381
doi: 10.36185/2532-1900-391
pmc: PMC10883327
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
106-112Informations de copyright
©2023 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.
Déclaration de conflit d'intérêts
The authors declare that they have no conflicts of interest.