Results 81 to 90 of about 1,730 (187)
Translational Research and Therapeutic Perspectives in Dysferlinopathies
Molecular Medicine, 2011 Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B) and the second most common being LGMD.
Barthelemy, Florian +4 more
openaire +3 more sources
Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 6, December 2025.ABSTRACT Background Skeletal muscle aging is associated with oxidative stress and mitochondrial dysfunction. Peroxiredoxins (PRDXs), particularly PRDX3 and PRDX5, are antioxidant enzymes that are uniquely localized to mitochondria. While PRDX3 has been reported to play a role in maintaining mitochondrial function in muscle, the specific function of ...
Joonho Suh +6 more
wiley +1 more source
Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests [PDF]
, 2019 © 2018 Wiley Periodicals, Inc.Introduction: The manner in which imaging patterns change over the disease course and with increasing disability in dysferlinopathy is not fully understood.
Ángel Sánchez‐Montáñez +17 more
core +1 more source
MyomiRs Expression in Limb Girdle Muscular Dystrophy
IUBMB Life, Volume 77, Issue 10, October 2025.ABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
G. Breveglieri +7 more
wiley +1 more source
European Journal of Neurology, Volume 32, Issue 9, September 2025.LGMD D3 in Uruguay presents as a slowly progressive adult‐onset scapulo‐pelvic‐peroneal dystrophy. Pathogenic variant c.1132G>C p.(Asp378His) was confirmed in all participants. This is the largest LGMD D3 cluster and first report of sex‐dependent age of onset.
Elisa Demicheli +10 more
wiley +1 more source
Proteomic investigation of the molecular pathophysiology of dysferlinopathy
PROTEOMICS, 2006 Abstract Mutations in dysferlin gene cause several types of muscular dystrophy in humans, including the limb‐girdle muscular dystrophy type 2B and the distal muscular dystrophy of Miyoshi. The dysferlin gene product is a membrane‐associated protein belonging to the ferlins family of proteins.
S. De Palma +6 more
openaire +6 more sources
A case of Miyoshi myopathy in clinical practice
Клинический разбор в общей медицинеMiyoshi myopathy belongs to the group of dysferlinopathies, rare myopathies, and therefore remains undiagnosed for a long time and currently has no etiopathogenetic treatment.
Nina B. Poletaeva +3 more
doaj +1 more source
Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development
The FEBS Journal, Volume 292, Issue 18, Page 4854-4869, September 2025.Three skeletal muscle diseases are linked to HMGCR, a key enzyme in cholesterol synthesis. These diseases include a muscular dystrophy associated with pathogenic variants in the HMGCR gene, statin‐associated myopathy, and autoimmune anti‐HMGCR myopathy.
Mekala Gunasekaran +20 more
wiley +1 more source
Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy
, 2020 © 2017 Svetlana F. Khaiboullina et al. Limb-girdle muscular dystrophy type 2 (LGMD2B) is a mild form of dysferlinopathy, characterized by limb weakness and wasting.
Yakovlev I. +7 more
core
Molecular Therapy: Nucleic Acids, 2018 Dysferlinopathy is a progressive myopathy caused by mutations in the dysferlin (DYSF) gene. Dysferlin protein plays a major role in plasma-membrane resealing.
Joshua J.A. Lee +4 more
doaj +1 more source