Results 21 to 30 of about 1,552 (162)

Improvement in childhood limb-girdle muscular dystrophy with Ayurvedic management: A case report

Journal of Ayurveda Case Reports, 2022
The Limb-Girdle Muscular Dystrophies (LGMDs) include a heterogeneous group of disorders characterized by the progressive wasting and weakness of the proximal limb-girdle muscles.
M. K Lekshmi, Alka Chouhan, Anjali Sam, Rakhi Krishanan   +3 more
doaj   +1 more source

Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice

Biomedicines, 2022
Sarcoglycanopathies are a group of recessive limb-girdle muscular dystrophies, characterized by progressive muscle weakness. Sarcoglycan deficiency produces instability of the sarcolemma during muscle contraction, leading to continuous muscle fiber ...
Jorge Alonso-Pérez, Ana Carrasco-Rozas, Maria Borrell-Pages, Esther Fernández-Simón, Patricia Piñol-Jurado, Lina Badimon, Lutz Wollin, Cinta Lleixà, Eduard Gallardo, Montse Olivé, Jordi Díaz-Manera, Xavier Suárez-Calvet   +11 more
doaj   +1 more source

Les sarcoglycanopathies [PDF]

médecine/sciences, 2020
Les sarcoglycanopathies font partie des dystrophies musculaires des ceintures (LGMD) autosomiques récessives et représentent la troisième cause la plus fréquente d’entre elles. Elles sont consécutives à un déficit d’un des sarcoglycanes α, β, γ, ou δ.
Gorka Fernández-Eulate, France Leturcq, Pascal Laforêt, Isabelle Richard, Tanya Stojkovic   +4 more
openaire   +1 more source

Sarcoglycanopathies: A clinico-pathological study [PDF]

Neurology India, 2007
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of disorders characterized by limb girdle weakness. There are no clear clinical features that distinguish various types of LGMD.We studied 26 patients with chronic progressive weakness in limb girdle distribution without early facial involvement with muscle biopsies suggestive of dystrophy ...
A K, Meena, D, Sreenivas, C, Sundaram, R, Rajasekhar, J S, Sita, R, Borgohain, A, Suvarna, S, Kaul   +7 more
openaire   +3 more sources

Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D

Skeletal Muscle, 2021
Background A cohort of related miniature dachshund dogs with exercise intolerance, stiff gait, dysphagia, myoglobinuria, and markedly elevated serum creatine kinase activities were identified.
James R. Mickelson, Katie M. Minor, Ling T. Guo, Steven G. Friedenberg, Jonah N. Cullen, Amanda Ciavarella, Lydia E. Hambrook, Karen M. Brenner, Sarah E. Helmond, Stanley L. Marks, G. Diane Shelton   +10 more
doaj   +1 more source

Revised spectrum of mutations in sarcoglycanopathies [PDF]

European Journal of Human Genetics, 2008
To define the spectrum of mutations in alpha-, beta-, gamma-, and delta-sarcoglycan (SG) genes, we analyzed these genes in 69 probands with clinical and biological criteria compatible with the diagnosis of autosomal recessive limb-girdle muscular dystrophy.
Madiha, Trabelsi, Niloufar, Kavian, Fatma, Daoud, Virginie, Commere, Nathalie, Deburgrave, Caroline, Beugnet, Stephane, Llense, Jean Claude, Barbot, Aurélie, Vasson, Jean Claude, Kaplan, France, Leturcq, Jamel, Chelly   +11 more
openaire   +2 more sources

Artificial intelligence workflow quantifying muscle features on Hematoxylin–Eosin stained sections reveals dystrophic phenotype amelioration upon treatment

Scientific Reports, 2022
Cell segmentation is a key step for a wide variety of biological investigations, especially in the context of muscle science. Currently, automated methods still struggle to perform skeletal muscle fiber quantification on Hematoxylin-Eosin (HE) stained ...
Marie Reinbigler, Jérémie Cosette, Zoheir Guesmia, Simon Jimenez, Catalin Fetita, Elisabeth Brunet, Daniel Stockholm   +6 more
doaj   +1 more source

Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy

European Journal of Histochemistry, 2022
Sarcoglycanopathies are highly heterogeneous in terms of disease progression, muscular weakness, loss of ambulation and cardiac/respiratory involvement.
Simona Zanotti, Francesca Magri, Francesca Poggetti, Michela Ripolone, Daniele Velardo, Francesco Fortunato, Patrizia Ciscato, Maurizio Moggio, Stefania Corti, Giacomo Pietro Comi, Monica Sciacco   +10 more
doaj   +1 more source

The P2X7 purinoceptor in pathogenesis and treatment of dystrophino- and sarcoglycanopathies [PDF]

Current Opinion in Pharmacology, 2023
Dystrophinopathy and sarcoglycanopathies are incurable diseases caused by mutations in the genes encoding dystrophin or members of the dystrophin associated protein complex (DAPC). Restoration of the missing dystrophin or sarcoglycans via genetic approaches is complicated by the downsides of personalised medicines and immune responses against re ...
Dariusz C. Gόrecki, Robin M.H. Rumney
openaire   +3 more sources

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

Skeletal Muscle, 2017
Background Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips.
Melissa L. Cox, Jacquelyn M. Evans, Alexander G. Davis, Ling T. Guo, Jennifer R. Levy, Alison N. Starr-Moss, Elina Salmela, Marjo K. Hytönen, Hannes Lohi, Kevin P. Campbell, Leigh Anne Clark, G. Diane Shelton   +11 more
doaj   +1 more source