Results 41 to 50 of about 2,813 (174)

Over three decades of natural history of limb girdle muscular dystrophy type R1/2A and R2/2B: Mathematical modelling of a multifactorial study

, 2021
We aimed to describe the natural history of Limb Girdle Muscular Dystrophy type 2A and 2B over more than three decades by considering muscular strength, motor, cardiac and respiratory function.
Gandossini S., Diella E., Pascuzzo R., Vantini S., LoMauro A., Marchi E., Pistininzi C., Aliverti A., D'Angelo M. G., Russo A.   +9 more
core   +1 more source

Proper Voltage-Dependent Ion Channel Function in Dysferlin-Deficient Cardiomyocytes

Cellular Physiology and Biochemistry, 2015
Background/Aims: Dysferlin plays a decisive role in calcium-dependent membrane repair in myocytes. Mutations in the encoding DYSF gene cause a number of myopathies, e.g. limb-girdle muscular dystrophy type 2B (LGMD2B).
Lena Rubi, Vaibhavkumar S. Gawali, Helmut Kubista, Hannes Todt, Karlheinz Hilber, Xaver Koenig   +5 more
doaj   +1 more source

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

, 2000
Dysferlin is the protein product of the gene (DYSF) that is defective in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy. Calpain 3 is the muscle-specific member of the calcium activated neutral protease family and primary ...
Argov, Z., Keers, S., Davison, K., Greenberg, C. R., Wrogemann, K., Vafiadaki, E., Moss, J. A., Pollitt, C., Anderson, L. V., Goebel, H. H., Pyle, A., Shaw, P. J., Bertorini, T., Harrison, R. M., Pogue, R., Bashir, R., Bushby, K. M., Mahjneh, I., Beckmann, J. S.   +18 more
core   +2 more sources

Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

Skeletal Muscle, 2011
Background Investigations into both the pathophysiology and therapeutic targets in muscle dystrophies have been hampered by the limited proliferative capacity of human myoblasts.
Mamchaoui Kamel, Trollet Capucine, Bigot Anne, Negroni Elisa, Chaouch Soraya, Wolff Annie, Kandalla Prashanth K, Marie Solenne, Di Santo James, St Guily Jean, Muntoni Francesco, Kim Jihee, Philippi Susanne, Spuler Simone, Levy Nicolas, Blumen Sergiu C, Voit Thomas, Wright Woodring E, Aamiri Ahmed, Butler-Browne Gillian, Mouly Vincent   +20 more
doaj   +1 more source

Whole Transcriptome Analysis (RNA Sequencing) of Peripheral Blood Mononuclear Cells of Vitiligo Patients

Dermatopathology, 2014
Vitiligo is an idiopathic disorder characterized by depigmented patches on the skin due to a loss of melanocytes. The cause of melanocyte destruction is not fully understood.
E. Reimann, K. Kingo, M. Karelson, P. Reemann, E. Vasar, H. Silm, S. Kõks   +6 more
doaj   +1 more source

Phenotypic Drug Screening for Dysferlinopathy Using Patient‐Derived Induced Pluripotent Stem Cells

Stem Cells Translational Medicine, 2019
Dysferlinopathy is a progressive muscle disorder that includes limb‐girdle muscular dystrophy type 2B and Miyoshi myopathy (MM). It is caused by mutations in the dysferlin (DYSF) gene, whose function is to reseal the muscular membrane.
Yuko Kokubu, Tomoko Nagino, Katsunori Sasa, Tatsuo Oikawa, Katsuya Miyake, Akiko Kume, Mikiko Fukuda, Hiromitsu Fuse, Ryuichi Tozawa, Hidetoshi Sakurai   +9 more
doaj   +1 more source

Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report

BMC Pediatrics, 2022
Background Dysferlinopathy refers to a heterogenous group of autosomal recessive disorders that affect a skeletal muscle protein called dysferlin. These mutations are associated with limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, asymptomatic ...
Jason Katz, Anatalia Labilloy, Andrew Lee   +2 more
doaj   +1 more source

LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B AS A DIFFERENTIAL DIAGNOSIS OF REFRACTORY POLYMYOSITIS: A CASE REPORT

SBR 2021 Congresso Brasileiro de Reumatologia, 2021
Jucier Gonçalves Júnior , Fernando Henrique Carlos de Souza , Renta Miossi , Maria Eugênia Teixeira Bicalho , Samuel Katsuyuki ...
Jucier Gonçalves Júnior, Fernando Henrique Carlos de Souza, Renta Miossi, Maria Eugênia Teixeira Bicalho, Samuel Katsuyuki Shinjo   +4 more
openaire   +1 more source

Cholesterol absorption blocker ezetimibe prevents muscle wasting in severe dysferlin‐deficient and mdx mice

Journal of Cachexia, Sarcopenia and Muscle, 2022
Background Muscular dystrophy (MD) causes muscle wasting and is often lethal in patients due to a lack of proven therapies. In contrast, mouse models of MD are notoriously mild. We have previously shown severe human‐like muscle pathology in mdx [Duchenne
Zoe White, Marine Theret, Nadia Milad, Lin Wei Tung, William Wei‐Han Chen, Martin G. Sirois, Fabio Rossi, Pascal Bernatchez   +7 more
doaj   +1 more source

Effects of Prednisone on a Patient with Dysferlinopathy Assessed by Maximal Voluntary Isometric Contraction: Alternate-Day Low-Dose Administration for a 17-Year Period

Case Reports in Neurology, 2019
Glucocorticoids are candidates for the pharmacological treatment of dysferlinopathy. Deflazacort, however, showed a worse effect on muscle strength than placebo.
Keiichi Takahashi
doaj   +1 more source