Results 1 to 10 of about 7,022 (221)

LGMD [PDF]

Neuromuscular Disorders, 2021
M. Iammarino, L. Alfano, M. James, T. Mozaffar, K. Mathews, C. Weihl, D. Leung, J. Statland, P. Kang, M. Wicklund, L. Lowes, J. Vissing, J. Diaz Manera, V. Ganesh, B. Holmberg, E. DeSpain, K. Bates, D. Sproule, N. Johnson, null GRASP Consortium   +19 more
  +43 more sources

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing [PDF]

Global Medical Genetics
Background: Limb-Girdle Muscular Dystrophy (LGMD) is a rare heterogeneous group of neuromuscular disorders distinguished by progressive weakness of limb-girdle muscles.
Priyanshu Mathur, Ashmeet Kaur, Urvashi Vijay, Ashok Gupta, Kamlesh Agarwal, Lokesh Agrawal   +5 more
doaj   +3 more sources

Differential expression profiling between the relative normal and dystrophic muscle tissues from the same LGMD patient [PDF]

Journal of Translational Medicine, 2006
Background Limb-girdle muscular dystrophy (LGMD) is a group of heterogeneous muscular disorders with autosomal dominant and recessive inheritance, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved.
Yang Wei, Tai Sheng, Xiao Xingjun, Zhao Xinyi, Chen Dazhi, Ye Jianwei, Zhang Yong, Zhu Dahai   +7 more
doaj   +2 more sources

Health-Related Quality-of-Life Outcomes in Patients with Recessive and Dominant LGMD: A Comparative Cross-Sectional Study [PDF]

Muscles
Limb–girdle muscular dystrophy (LGMD) encompasses a heterogeneous group disease, genetic and phenotypically. There are more than 30 subtypes divided into two groups: autosomal dominant and recessive.
Clara Lépée-Aragón, Irune García, Alicia Aurora Rodríguez, Corrado Angelini, Oscar Martínez   +4 more
doaj   +2 more sources

French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice [PDF]

Orphanet Journal of Rare Diseases
Background Calpainopathies, including limb-girdle muscular dystrophy recessive type 1 (LGMD R1) and the rare dominant type 4 (LGMD D4), are genetic neuromuscular disorders caused by pathogenic variants in the CAPN3 gene, which encodes calpain-3, a muscle-
Gianmarco Severa, Sarah Souvannanorath, Iman Tahiri, Christophe Alimi, Abderhmane Slioui, Luisa Villa, Emmanuelle Salort-Campana, France Leturcq, Nathalie Streichenberger, Martin Krahn, Guilhem Solé, Léonard Feasson, Aleksandra Nadaj-Pakleza, Celine Tard, Tanya Stojkovic, Sabrina Sacconi, Edoardo Malfatti   +16 more
doaj   +2 more sources

Multi-parametric quantitative MRI of the lower limb muscles in a longitudinal study of limb-girdle muscular dystrophy R9. [PDF]

PLoS ONE
Background and objectivesLimb-girdle muscular dystrophy R9 (LGMD-R9) is a rare neuromuscular disease with no curative treatment. Sensitive non-invasive biomarkers are necessary to monitor disease progression and evaluate the efficacy of novel therapies ...
Susanne S Rauh, Pierre-Yves Baudin, Tanya Stojkovic, Simone Birnbaum, Valérie Decostre, Rachida-Lydie Zanfongnon, Yves Fromes, Melissa T Hooijmans, Gustav J Strijkers, Jean-Yves Hogrel, Sophie Olivier, Benjamin Marty, Harmen Reyngoudt   +12 more
doaj   +2 more sources

Detection of gene variants associated with recessive limb–girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis [PDF]

Frontiers in Genetics
IntroductionHereditary myopathies arise due to numerous pathogenic variants occurring in distinct genes, which amount to several hundred. Limb–girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders involving more ...
Jorge Alfredo Bevilacqua, Abdullah Mohammed Al-Salti, Abubaker Al Madani, Armando Alves da Fonseca, Hacer Durmus, Josiah Chai, Ali Alshehri, Márcia Gonçalves Ribeiro, Paulo Sgobbi, Sergey S. Nikitin, Steven Vargas, Adriana Furtado, Nathan Thibault, Roberto Araujo, Nadia Daba   +14 more
doaj   +2 more sources

Rehabilitation Challenges in Limb-Girdle Muscular Dystrophies [PDF]

Balneo and PRM Research Journal, 2021
Limb-girdle muscular dystrophy (LGMD) is a burdensome progressive neuromuscular disease, with a great impact upon quality of life. Unlike other types of neuromuscular dystrophies, which have onset in early childhood and severely limit the life expectancy,
TROFIN Dan, MATEI Daniela, STAMATE Teodor, WALTHER Bild, TROFIN Daniela Marilena   +4 more
doaj   +1 more source

Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review

Arquivos de Neuro-Psiquiatria, 2023
Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes ...
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Renata Dal-Pra Ducci, Otto Jesus Hernandez Fustes, Paula Raquel do Vale Pascoal Rodrigues, Nyvia Milicio Coblinski Hrysay, Raquel Cristina Arndt, Lineu Cesar Werneck, Rosana Herminia Scola   +8 more
doaj   +1 more source

Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients

Orphanet Journal of Rare Diseases, 2023
Background Limb-girdle muscular dystrophies (LGMDs) are a group of heterogeneous inherited diseases predominantly characterized by limb-girdle muscle weakness and dystrophic changes on histological analysis.
Feng Lin, Kang Yang, Xin Lin, Ming Jin, Long Chen, Fu-ze Zheng, Liang-liang Qiu, Zhi-xian Ye, Hai-zhu Chen, Min-ting Lin, Ning Wang, Zhi-qiang Wang   +11 more
doaj   +1 more source