Results 11 to 20 of about 805 (150)

Phenotypic and immunohistochemical characterization of sarcoglycanopathies [PDF]

Clinics, 2011
INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of ...
Ana F. B. Ferreira, Mary S. Carvalho, Maria Bernadete D. Resende, Alda Wakamatsu, Umbertina Conti Reed, Suely Kazue Nagahashi Marie   +5 more
doaj   +6 more sources

Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy [PDF]

Orphanet Journal of Rare Diseases
Background Sarcoglycanopathies (SGPs) are limb-girdle muscular dystrophies (LGMDs) that can be classified into four types, LGMDR3, LGMDR4, LGMDR5, and LGMDR6, caused by mutations in the genes, SGCA, SGCB, SGCG, and SGCD, respectively. SGPs are relatively
Rui Shimazaki, Yoshihiko Saito, Tomonari Awaya, Narihiro Minami, Ryo Kurosawa, Motoyasu Hosokawa, Hiroaki Ohara, Shinichiro Hayashi, Akihide Takeuchi, Masatoshi Hagiwara, Yukiko K. Hayashi, Satoru Noguchi, Ichizo Nishino   +12 more
doaj   +4 more sources

Muscle Diversity, Heterogeneity, and Gradients: Learning from Sarcoglycanopathies [PDF]

International Journal of Molecular Sciences, 2021
Skeletal muscle, the most abundant tissue in the body, is heterogeneous. This heterogeneity forms the basis of muscle diversity, which is reflected in the specialized functions of muscles in different parts of the body. However, these different parts are
Marina Bouché, Stefano Testa, Biliana Lozanoska-Ochser   +2 more
exaly   +5 more sources

Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies

Clinical Neuropathology, 2021
Since the immune system plays a role in the pathogenesis of several muscular dystrophies, we aim to characterize several muscular inflammatory features in α- (LGMD R3) and γ-sarcoglycanopathies (LGMD R5).We explored the expression of major histocompatibility complex class I molecules (MHCI), and we analyzed the composition of the immune infiltrates in ...
Panicucci C., Baratto S., Raffaghello L., Tonin P., D'Amico A., Tasca G., Traverso M., Fiorillo C., Minetti C., Previtali S. C., Pegoraro E., Bruno C.   +11 more
core   +9 more sources

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   +2 more sources

Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects [PDF]

Expert Reviews in Molecular Medicine, 2009
Sarcoglycanopathies are a group of autosomal recessive muscle-wasting disorders caused by genetic defects in one of four cell membrane glycoproteins, α-, β-, γ- or δ-sarcoglycan. These four sarcoglycans form a subcomplex that is closely linked to the major dystrophin-associated protein complex, which is essential for membrane integrity during muscle ...
SANDONA', DORIANNA, BETTO R.
openaire   +5 more sources

Sarcoglycanopathy with absent expression of all sarcoglycan proteins in a young cat with clinical features of feline hypertrophic muscular dystrophy [PDF]

Journal of Feline Medicine and Surgery Open Reports
Case summary A 1-year-old, male castrated domestic shorthair cat presented for chronic mobility decline and muscle stiffness, first noted at 3 months of age, and persistently elevated serum creatine kinase levels (>19,000–53,000 IU/l).
Arian Doroudi, Anna Sirochman, Allison Mooney   +2 more
doaj   +2 more sources

Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex [PDF]

Orphanet Journal of Rare Diseases, 2019
Background Dystrophin-glycoprotein complex (DGC)-related muscular dystrophies may present similar clinical and pathological features as well as undetectable mutations thus being sometimes difficult to distinguish.
Zhiying Xie, Zhihao Xie, Meng Yu, Yiming Zheng, Chengyue Sun, Yilin Liu, Chen Ling, Ying Zhu, Wei Zhang, Jiangxi Xiao, Zhaoxia Wang, Yun Yuan   +11 more
doaj   +2 more sources

Sarcospan protects against LGMD R5 via remodeling of the sarcoglycan complex composition in dystrophic mice [PDF]

The Journal of Clinical Investigation
The dystrophin-glycoprotein complex (DGC) is composed of peripheral and integral membrane proteins at the muscle cell membrane that link the extracellular matrix with the intracellular cytoskeleton.
Ekaterina I. Mokhonova, Daniel Helzer, Ravinder Malik, Hafsa Mamsa, Jackson Walker, Mark Maslanka, Tess S. Fleser, Mohammad H. Afsharinia, Shiheng Liu, Johan Holmberg, Z. Hong Zhou, Eric J. Deeds, Kirk C. Hansen, Elizabeth M. McNally, Rachelle H. Crosbie   +14 more
doaj   +2 more sources

MRI in sarcoglycanopathies: a large international cohort study [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2017
ObjectivesTo characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C–2F) caused by mutations in one of the four genes coding for muscle sarcoglycans.MethodsLower limb MRI scans of patients with LGMD2C–2F, ranging from severe childhood ...
Tasca, Giorgio, Monforte, Mauro, Díaz-Manera, Jordi, Brisca, Giacomo, Semplicini, Claudio, D'Amico, Adele, Fattori, Fabiana, Pichiecchio, Anna, Berardinelli, Angela, Maggi, Lorenzo, Maccagnano, Elio, Løkken, Nicoline, Marini-Bettolo, Chiara, Munell, Francina, Sanchez, Angel, Alshaikh, Nahla, Voermans, Nicol C., Dastgir, Jahannaz, Vlodavets, Dmitry, Haberlová, Jana, Magnano, Gianmichele, Walter, Maggie C., Quijano-Roy, Susana, Carlier, Robert-Yves, Van Engelen, Baziel G. M., Vissing, John, Straub, Volker, Bönnemann, Carsten G., Mercuri, Eugenio, Muntoni, Francesco, Pegoraro, Elena, Bertini, Enrico, Udd, Bjarne, Ricci, Enzo, Bruno, Claudio   +34 more
core   +11 more sources