Results 71 to 80 of about 466,013 (152)

Familial manifestation of limb-girdle muscular dystrophy associated with FKTN gene: a case report

Revista Brasileira de Saúde Materno Infantil
Introduction: to report a familial case of Limb-girdle muscular dystrophy, type C, 4 (MDDGC4) associated with a homozygous mutation in FKTN gene, highlighting phenotypic variability, diagnostic delay, and atypical clinical features described in the ...
Milena Babugia Pinto, Fernanda Isabely Morgan Magalhães, Vinicius Takeshi Ebihara, Arthur Arenas Périco, Ana Gabriela Gomes Ferrari Strang   +4 more
doaj   +2 more sources

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

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy

Annals of Clinical and Translational Neurology
Objective Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity.
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova, April Kennedy, Zhiyv Niu, Mridul Johari, Alassane Baneye Maiga, Kelly Macalalad, Amanda R. Clause, Jacques S. Beckmann, Lucas Bronicki, Sandra T. Cooper, Vijay S. Ganesh, Peter B. Kang, Akanchha Kesari, Monkol Lek, Jennifer Levy, Laura Rufibach, Marco Savarese, Melissa J. Spencer, Volker Straub, Giorgio Tasca, Conrad C. Weihl   +29 more
doaj   +1 more source

Distinctive serum miRNA profile in mouse models of striated muscular pathologies.

PLoS ONE, 2013
Biomarkers are critically important for disease diagnosis and monitoring. In particular, close monitoring of disease evolution is eminently required for the evaluation of therapeutic treatments.
Nicolas Vignier, Fatima Amor, Paul Fogel, Angélique Duvallet, Jérôme Poupiot, Sabine Charrier, Michel Arock, Marie Montus, Isabelle Nelson, Isabelle Richard, Lucie Carrier, Laurent Servais, Thomas Voit, Gisèle Bonne, David Israeli   +14 more
doaj   +1 more source

Limb-girdle muscular dystrophies - From genetics to molecular pathology

The limb-girdle muscular dystrophies are a diverse group of muscle-wasting disorders characteristically affecting the large muscles of the pelvic and shoulder girdles. Molecular genetic analyses have demonstrated causative mutations in the genes encoding
Laval SH, Bushby KMD
core   +5 more sources

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene

International Medical Case Reports Journal
Omar Ahmed Alghamdi,1 Osama Obaid,2 Ahmed Gamal Sayed,3 Hania Farhan,3 Jamal Sayed1 1Department of Pediatrics, Security Forces Hospital Makkah, (SFHM), Makkah, Saudi Arabia; 2Department of Pediatrics, Maternity and Children Hospital, Makkah, Saudi Arabia;
Alghamdi OA, Obaid O, Sayed AG, Farhan H, Sayed J   +4 more
doaj  

Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies

Annals of Clinical and Translational Neurology
Objective Several neuromuscular disorders (NMDs) are characterized by progressive muscle damage and are marked by the elevation of circulating muscle proteins from activity‐related injury.
Mads G. Stemmerik, Benjamin Barthel, Nanna R. Andersen, Sofie V. Skriver, Alan J. Russell, John Vissing   +5 more
doaj   +1 more source

LGMD2I in a North American population

BMC Musculoskeletal Disorders, 2007
Background There is a marked variation in clinical phenotypes that have been associated with mutations in FKRP, ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy type 2I (LGMD2I).
White Alexander J, Thorne Marielle, Estrella Elicia, Feener Chris A, Kang Peter B, Darras Basil T, Amato Anthony A, Kunkel Louis M   +7 more
doaj   +1 more source

Novel mutations in the SGCA gene in unrelated Vietnamese patients with limb-girdle muscular dystrophies disease. [PDF]

Front Genet, 2023
Chung Tran N, Lien NTK, Ta TD, Nguyen VH, Tran HT, Van Tung N, Xuan NT, Huy Hoang N, Tran VK.   +8 more
europepmc   +1 more source