Results 51 to 60 of about 1,552 (162)
Arthritis &Rheumatology, Volume 77, Issue 5, Page 506-520, May 2025.Clinical tools that can aid in the diagnostic differentiation of juvenile dermatomyositis from muscular dystrophy.
Jacqueline A. Madison +9 more
wiley +1 more source
Characterisation of phenotypic patterns in equine exercise‐associated myopathies
Equine Veterinary Journal, Volume 57, Issue 2, Page 347-361, March 2025.Abstract Background Equine exercise‐associated myopathies are prevalent, clinically heterogeneous, generally idiopathic disorders characterised by episodes of myofibre damage that occur in association with exercise. Episodes are intermittent and vary within and between affected horses and across breeds.
Victoria Lindsay‐McGee +5 more
wiley +1 more source
Gene therapy for genetic diseases: challenges and future directions
MedComm, Volume 6, Issue 2, February 2025.The graphical abstract provides an overview of gene therapy approaches, detailing the components of the therapy and the various delivery routes. Both in vivo and ex vivo strategies facilitate the implementation of gene replacement, gene suppression, gene supplementation, and gene editing.
Beibei Qie +4 more
wiley +1 more source
Gamma-sarcoglycanopathy (LGMD 2C) with Del 525T mutation: Report of the first familial case in Niger [PDF]
, 2012 We are reporting a familial case of limb-girdle muscular dystrophy (LGMD) upon 5 out of 6 siblings from parents showing no evidence of muscular dystrophy.
Guida, S +7 more
core +1 more source
Advanced therapeutic approaches in sarcoglycanopathies
Current Opinion in PharmacologySarcoglycanopathies are rare autosomal recessive diseases belonging to the family of limb-girdle muscular dystrophies. They are caused by mutations in the genes coding for α-, β-, γ-, and δ-sarcoglycan. The mutations impair the assembly of a key structural complex, which normally protects the sarcolemma of striated muscle from contraction-derived ...
Martina Scano +3 more
openaire +2 more sources
Calf Muscles Hypertrophy in Sarcoglycanopathy
Journal of Postgraduate Medicine, Education and Research, 2017 ABSTRACT Though calf muscle hypertrophy is thought to be a signatory finding of dystrophinopathies, it can also be observed in other muscular dystrophies. Failure to recognise this may result in diagnostic errors. We present a patient with delta sarcoglycanopathy who had hypertrophy of the brachioradialis, gastrocnemius and extensor digitorum brevis ...
Manish Modi +5 more
openaire +1 more source
Muscle &Nerve, Volume 71, Issue 2, Page 138-146, February 2025.Abstract Limb‐girdle muscular dystrophies (LGMDs) constitute a diverse group of inherited disorders primarily affecting skeletal muscle. Despite the absence of cures, rehabilitative treatments offer potential for preventing and mitigating loss of muscle strength. However, the role of exercise training in LGMD patients remains contentious.
Giorgia D'Este +6 more
wiley +1 more source
Animal Science Journal, Volume 96, Issue 1, January/December 2025.ABSTRACT Skeletal muscle regeneration is a complex process that requires coordinated interactions between myogenic and vascular cells. Chondroitin sulfate proteoglycan 4 (CSPG4), a cell surface proteoglycan, had been shown to be expressed around immature myofibers in patients with Duchenne muscular dystrophy, suggesting its role in muscle regeneration.
Riku Yamaguchi +10 more
wiley +1 more source
263 Cardiac characterization of sgca-null mouse, a model of alpha-sarcoglycanopathy, by using echocardiography [PDF]
, 2010 Alpha-sarcoglycanopathy (LGMD2D) is an autosomal recessive inherited limb-girdle muscular dystrophy caused by mutations in the alpha-sarcoglycan gene, SGCA.
Guerchet, Nicolas +4 more
core +1 more source
The Egyptian Journal of Neurology, Psychiatry and NeurosurgeryBackground Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited neuromuscular disorders characterized by progressive weakness of the pelvic and shoulder girdle muscles.
Sara Mohamed Ihab +4 more
doaj +1 more source