Results 91 to 100 of about 7,022 (221)
EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia
European Journal of Neurology, Volume 33, Issue 2, February 2026.ABSTRACT Background Recent epidemiological studies on the general population reveal that up to 1.3% have oligo/asymptomatic hyperCKemia. Objective This guideline aims to provide updated, evidence‐based recommendations on investigating persons older than 18 years.
T. Kyriakides +15 more
wiley +1 more source
BMC Musculoskeletal DisordersBackground Limb girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders with a very variable clinical presentation and overlapping traits.
Hamed Hesami +8 more
doaj +1 more source
RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice
Molecular Therapy: Nucleic Acids, 2014 Recent progress suggests gene therapy may one day be an option for treating some forms of limb girdle muscular dystrophy (LGMD). Nevertheless, approaches targeting LGMD have so far focused on gene replacement strategies for recessive forms of the disease.
Jian Liu +9 more
doaj +1 more source
Physiology of respiratory disturbances in muscular dystrophies [PDF]
, 2016 Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e.
Aliverti, Andrea +1 more
core +2 more sources
Neuropathology and Applied Neurobiology, Volume 52, Issue 1, February 2026.We validated an immunohistochemical method for detecting dysferlin in neutrophils from peripheral blood films (PBFs), offering a minimally invasive alternative to muscle biopsy. In an Indian cohort, the assay showed 100% sensitivity. Specificity depended on sample quality and storage conditions.
G. D'Este +6 more
wiley +1 more source
JCSM Communications, Volume 9, Issue 1, January/June 2026.ABSTRACT Background Muscular dystrophies (MD) are a genetically diverse group of muscle disorders, many of which arise from mutations in genes encoding components of the sarcolemma dystrophin‐associated glycoprotein complex (DGC). Despite their notorious heterogeneity, MDs consistently lead to chronic myofiber weakening, necrosis and loss of muscle ...
Yejin Kang, Pascal Bernatchez
wiley +1 more source
Limb girdle muscular dystrophies: The clinicopathological viewpoint
Annals of Indian Academy of Neurology, 2007 Limb girdle muscular dystrophies (LGMD) are characterized by involvement of the pelvic and shoulder girdles, classically with an onset in the second or third decade and a slow progression as opposed to Duchenne muscular dystrophy. In fact, there are many
Urtizberea J, Leturcq France
doaj
Distribution of limb girdle muscular dystrophy subtypes among Portuguese patients [PDF]
, 2012 Although the limb girdle muscular dystrophies (LGMD) are collectively characterized by progressive muscle weakness, they exhibit wide clinical and genetic heterogeneity. Over 23 loci have been identified; eight are autosomal dominant subtypes (LGMD1A-1H)
Vieira, Emília
core
Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy-Associated Cardiomyopathy. [PDF]
, 2015 BackgroundDuchenne muscular dystrophy is a fatal cardiac and skeletal muscle disease resulting from mutations in the dystrophin gene. We have previously demonstrated that a dystrophin-associated protein, sarcospan (SSPN), ameliorated Duchenne muscular ...
Crosbie-Watson, Rachelle H +6 more
core +1 more source
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]
, 2008 Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Achanzar +70 more
core +1 more source