The limb-girdle muscular dystrophies
MP Wicklund - CONTINUUM: Lifelong Learning in Neurology, 2019 - journals.lww.com
Abstract purpose of review As a group, the limb-girdle muscular dystrophies (LGMDs) are
the fourth most prevalent genetic muscle disease, yet they are still not well known or …
the fourth most prevalent genetic muscle disease, yet they are still not well known or …
Fukutin-related protein: from pathology to treatments
Fukutin-related protein (FKRP) is a glycosyltransferase involved in the functional
glycosylation of α-dystroglycan (DG), a key component in the link between the cytoskeleton …
glycosylation of α-dystroglycan (DG), a key component in the link between the cytoskeleton …
FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy
The muscular dystrophies encompass a broad range of pathologies with varied clinical
outcomes. In the case of patients carrying defects in fukutin-related protein (FKRP), these …
outcomes. In the case of patients carrying defects in fukutin-related protein (FKRP), these …
Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints
AP Murphy, J Morrow, JR Dahlqvist… - Annals of Clinical …, 2019 - Wiley Online Library
Objective Limb girdle muscular dystrophy type R9 (LGMD R9) is an autosomal recessive
muscle disease for which there is currently no causative treatment. The development of …
muscle disease for which there is currently no causative treatment. The development of …
Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies
Fukutin-related protein (FKRP) is a glycosyltransferase involved in glycosylation of alpha-
dystroglycan (α-DG). Mutations in FKRP are associated with muscular dystrophies (MD) …
dystroglycan (α-DG). Mutations in FKRP are associated with muscular dystrophies (MD) …
[HTML][HTML] Molecular Study of the Fukutin-Related Protein (FKRP) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype
A Qualtieri, S De Benedittis, A Cerantonio… - International Journal of …, 2024 - mdpi.com
Pathogenic variants localized in the gene coding for the Fukutin-Related Protein (FKRP) are
responsible for Limb-Girdle Muscular Dystrophy type 9 (LGMDR9), Congenital Muscular …
responsible for Limb-Girdle Muscular Dystrophy type 9 (LGMDR9), Congenital Muscular …
FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients
H Awano, Y Saito, M Shimizu, K Sekiguchi… - Journal of Clinical …, 2021 - Elsevier
Mutation in the fukutin-related protein (FKRP) gene causes alpha-dystroglycanopathies, a
group of autosomal recessive disorders associated with defective glycosylated alpha …
group of autosomal recessive disorders associated with defective glycosylated alpha …
Magnetic resonance imaging findings in the muscle tissue of patients with limb girdle muscular dystrophy type 2I harboring the founder mutation c. 545A> G in the …
Z Xie, J Xiao, Y Zheng, Z Wang… - BioMed Research …, 2018 - Wiley Online Library
Limb girdle muscular dystrophy type 2I (LGMD2I) is an autosomal recessive muscular
dystrophy that is rare in Asia and is caused by mutations in the fukutin‐related protein gene …
dystrophy that is rare in Asia and is caused by mutations in the fukutin‐related protein gene …
Prospective observational study of FKRP‐related limb‐girdle muscular dystrophy R9: A GRASP consortium study
LN Alfano, MK James… - Annals of clinical …, 2024 - Wiley Online Library
Objective Limb‐girdle muscular dystrophy R9 (LGMDR9, formerly known as LGMD2I),
caused by variants in the fukutin‐related protein (FKRP) gene leads to progressive muscle …
caused by variants in the fukutin‐related protein (FKRP) gene leads to progressive muscle …
Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages
H Kölbel, C Preuße, L Brand… - Neuropathology and …, 2021 - Wiley Online Library
Aims Variable degrees of inflammation, necrosis, regeneration and fibrofatty replacement
are part of the pathological spectrum of the dystrophic process in alpha dystroglycanopathy …
are part of the pathological spectrum of the dystrophic process in alpha dystroglycanopathy …