Results 71 to 80 of about 5,189 (209)

Limb-girdle muscular dystrophies [PDF]

Neurologie pro praxi, 2021
Lenka Fajkusová, Jana Zídková
openaire   +2 more sources

Advances in diagnosis and treatment of limb-girdle muscular dystrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Limb - girdle muscular dystrophy (LGMD) is a group of disorders caused by gene mutations, with proximal muscle weakness as their main manifestation. Although various subtypes of LGMD share the common feature, heterogenity exist both in clinical phenotype
Meng YU, Zhao-xia WANG
doaj  

Skeletal muscle‐specific myostatin overexpression promotes muscle oxidative capacity and fatigue resistance in transgenic mice

Experimental Physiology, Volume 111, Issue 7, Page 3357-3380, 1 July 2026.
Abstract In addition to controlling muscle mass, myostatin may support oxidative metabolism and endurance. Loss of function through gene knockout or post‐natal blockade generally lowers muscle oxidative capacity and increases fatigability. These observations imply that myostatin activation could promote a more oxidative and less fatigable muscle ...
Andy V. Khamoui, Andrea Abraham, Janos Porszasz, Istvan Kovanecz, Silvana Constantinescu, Harry B. Rossiter, Suzanne Reisz‐Porszasz   +6 more
wiley   +1 more source

Use of magnetic resonance imaging in the diagnosis of idiopathic inflammatory myopathies

Современная ревматология, 2019
Idiopathic inflammatory myopathies (IIMs) are a group of autoimmune diseases characterized by cross-striated muscle inflammation accompanied by muscle weakness.
A. N. Khelkovskaya-Sergeeva, L. P. Ananyeva, D. O. Kazakov, E. L. Nasonov   +3 more
doaj   +1 more source

Refining the genetics of muscular dystrophies with defective glycosylation of dystroglycan

, 2010
The aberrant glycosylation of α-dystroglycan is associated with a subset of clinically heterogeneous muscular dystrophies collectively referred to as dystroglycanopathies.
Godfrey, C.
core  

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies

, 2008
Fourteen years ago, the first disease-causing mutation in a form of autosomal recessive limb-girdle muscular dystrophy was reported. Since then the number of genes has been extended to at least 14 and the phenotypic spectrum has been broadened.
Kate Bushby, Straub VW, Volker Straub, Bushby KMD   +3 more
core   +1 more source

Cardiomyopathies and Arrythmias in Neuromuscular Diseases

Cardiogenetics
Neuromuscular diseases (NMDs) encompass various hereditary conditions affecting motor neurons, the neuromuscular junction, and skeletal muscles. These disorders are characterized by progressive muscle weakness and can manifest at different stages of life,
Giuseppe Sgarito, Calogero Volpe, Stefano Bardari, Raimondo Calvanese, Paolo China, Giosuè Mascioli, Martina Nesti, Carlo Pignalberi, Manlio Cipriani, Massimo Zecchin   +9 more
doaj   +1 more source

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

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   +1 more source

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

, 2016
Background: Limb-girdle muscular dystrophies are characterized by predominant involvement of the shoulder and pelvic girdle and trunk muscle groups.
Utkus, Algirdas,, Kristine Viksne, Baiba Lace, Eriks Jankevics, Vaidutis Kucinskas, Inta Vasiljeva, Maruta S. Naudina, Astrida Krumina, Algirdas Utkus, Matulevičienė, Aušra,, Loreta Cimbalistiene, Inna Inashkina, Burnytė, Birutė,, Jurgis Strautmanis, Inashkina, Inna,, Cimbalistienė, Loreta,, Janis Stavusis, Kučinskas, Vaidutis,, Birute Burnyte, Lace, Baiba,, Jankevics, Eriks,, Viksne, Kristine,, Stavusis, Janis,, Strautmanis, Jurgis,, Ieva Micule, Micule, Ieva,, Vasiljeva, Inta,, Naudina, Maruta S.,, Ausra Matuleviciene, Krumina, Astrida,   +29 more
core   +1 more source