Results 1 to 10 of about 2,672 (146)

LGMD [PDF]

Neuromuscular Disorders, 2021
S. Bolding, M. Leffer, K. Davis, A. Burns, M. Contesse   +4 more
  +43 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

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

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

Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene

Frontiers in Pediatrics
Limb-girdle muscular dystrophies (LGMD) constitute a heterogeneous group of genetic disorders characterized by progressive muscle weakness and atrophy, predominantly affecting the muscles of the pelvic and shoulder girdles.
Sergey Nikitin, Aysylu Murtazina, Olga Shchagina   +2 more
exaly   +3 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

Skeletal Muscle Cells Derived from Induced Pluripotent Stem Cells: A Platform for Limb Girdle Muscular Dystrophies

Biomedicines, 2022
Limb girdle muscular dystrophies (LGMD), caused by mutations in 29 different genes, are the fourth most prevalent group of genetic muscle diseases. Although the link between LGMD and its genetic origins has been determined, LGMD still represent an unmet ...
Celine Bruge, Marine Geoffroy, Manon Benabides, Emilie Pellier, Evelyne Gicquel, Jamila Dhiab, Lucile Hoch, Isabelle Richard, Xavier Nissan   +8 more
doaj   +1 more source

Mitochondrial calcium uptake 1 (MICU1) gene-related myopathy with extrapyramidal signs: A clinico-radiological case report from India

Annals of Indian Academy of Neurology, 2023
Myopathy with extrapyramidal signs (MPXPS) is a rarely reported entity worldwide, manifesting as a muscular dystrophy with movement disorders. It results from mutations in the mitochondrial calcium uptake 1 (MICU1) gene.
Debaleena Mukherjee, Adreesh Mukherjee, Subhadeep Gupta, Souvik Dubey, Alak Pandit   +4 more
doaj   +1 more source