Results 21 to 30 of about 484,924 (172)

Anaesthetic management of a child with Limb-Girdle muscular dystrophy [PDF]

, 2014
Limb-girdle müsküler distrofileri, genetik ve klinik özellikleri açısından farklılıklar gösteren bir hastalık grubudur. Bu hastalıklar cerrahi ve anestezi ile ilişkili yaşamı tehdit eden komplikasyonlara neden olabilir.
Yücekul, Melike, Sarkılar, Gamze, Otelcioğlu, Şeref, Mermer, Aydın, Çeken, Bedia Mine, Altun, Celadettin   +5 more
core   +3 more sources

Myocardial Contractile Dysfunction is Present Without Histopathology in a Mouse Model of Limb-Girdle Muscular Dystrophy-2F and is Prevented after Claudin-5 Virotherapy

Frontiers in Physiology, 2016
Mutations in several members of the dystrophin glycoprotein complex lead to skeletal and cardiomyopathies. Cardiac care for these muscular dystrophies consists of management of symptoms with standard heart medications after detection of reduced whole ...
Nima Milani-Nejad, Eric J Schultz, Jessica L Slabaugh, Paul M L Janssen, Jill A. Rafael-Fortney   +4 more
doaj   +1 more source

Regional anesthesia as a safe option in patient with limb girdle muscular dystrophy undergoing total abdominal hysterectomy: A case report and case review

Clinical Case Reports, 2022
Regional anesthesia can be a very safe option in patients with limb girdle muscular dystrophy undergoing lower abdominal surgeries as general anesthesia and volatile anesthetic agents are associated with increased risk of malignant hyperthermia and ...
Sagar Devkota, Sangeeta Shrestha, Tara Gurung, Saurav Shrestha   +3 more
doaj   +1 more source

P2X7 Receptor Antagonist Reduces Fibrosis and Inflammation in a Mouse Model of Alpha-Sarcoglycan Muscular Dystrophy

Pharmaceuticals, 2022
Limb-girdle muscular dystrophy R3, a rare genetic disorder affecting the limb proximal muscles, is caused by mutations in the α-sarcoglycan gene (Sgca) and aggravated by an immune-mediated damage, finely modulated by the extracellular (e)ATP ...
Lizzia Raffaghello, Elisa Principi, Serena Baratto, Chiara Panicucci, Sara Pintus, Francesca Antonini, Genny Del Zotto, Andrea Benzi, Santina Bruzzone, Paolo Scudieri, Carlo Minetti, Elisabetta Gazzerro, Claudio Bruno   +12 more
doaj   +1 more source

Transgenic Overexpression of LARGE Induces alpha-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle [PDF]

, 2010
Background: LARGE is one of seven putative or demonstrated glycosyltransferase enzymes defective in a common group of muscular dystrophies with reduced glycosylation of alpha-dystroglycan.
Paul S Sharp, Dominic J. Wells, Ke Liu, Susan C Brown, Sharp, P S, Dominic J Wells, Cirak, S., Sebahattin Cirak, Wells, DJ, Paul S. Sharp, Muntoni, F., Susan C. Brown, Wells, D J, Brockington, M., Cirak, S, Liu, K., Brockington, M, Torelli, S, Brown, SC, Sharp, PS, Muntoni, F, Brown, S C, Sharp, P.S., Torelli, S., Liu, K, Wells, D.J., Silvia Torelli, Brockington, M A, Francesco Muntoni, Martin Brockington, Brown, S.C.   +30 more
core   +1 more source

The heart in limb girdle muscular dystrophy [PDF]

, 1998
OBJECTIVE: To assess the frequency, nature, and severity of cardiac abnormalities in limb girdle muscular dystrophy, and its relation to age and weakness in various genotypes.
Barth, P. G., Busch, H.F.M., Jennekens, F. G., van der Kooi, AJ, Jongen, P. J., Jongen, PJH, Voogt, W.G. de, Jongen, P.J.H., Visser, M. de, Barth, PG, Barth, P.G., Busch, H. F., Kooi, A.J. van der, de Voogt, WG, Jennekens, FGI, de Visser, M., van der Kooi, A. J., Jennekens, F.G.I., de Voogt, W. G., de Voogt, W.G., van der Kooi, A.J., Busch, HFM (Herman), Visser, M   +22 more
core   +1 more source

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
core   +1 more source

δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches

Skeletal Muscle, 2011
Mutations in the δ-sarcoglycan gene cause limb-girdle muscular dystrophy 2F (LGMD2F), an autosomal recessive disease that causes progressive weakness and wasting of the proximal limb muscles and often has cardiac involvement.
Blain Alison M, Straub Volker W
doaj   +1 more source

Disease-associated mutations within the yeast DNAJB6 homolog Sis1 slow conformer-specific substrate processing and can be corrected by the modulation of nucleotide exchange factors

Nature Communications, 2022
Here the authors describe mechanisms through which analogous LGMDD1 (Limb-Girdle Muscular Dystrophy Type D1) mutations affect Sis1 (a yeast functional homolog of human DNAJB6) chaperone activity and poison the function of wild-type protein; potentially ...
Ankan K. Bhadra, Michael J. Rau, Jil A. Daw, James A. J. Fitzpatrick, Conrad C. Weihl, Heather L. True   +5 more
doaj   +1 more source

Retinal Vascular Disease in Limb-Girdle Muscular Dystrophy

, 2022
PURPOSETo report bilateral retinal vascular occlusive disease in limb-girdle muscular dystrophy. METHODSCase report. RESULTSA 34-year-old Asian woman was referred for evaluation and management of central retinal vein occlusion.
Kennedy, Thomas, Shaheen, Abdulla R, Yannuzzi, Nicolas A, Yannuzzi, Lawrence A   +3 more
core   +1 more source