Results 1 to 10 of about 1,552 (162)

An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy [PDF]

Muscles, 2023
Limb-girdle muscular dystrophies (LGMDs) represent a group of muscle diseases due to monogenic mutations encoding muscle proteins that are defective for heterozygous and homozygous mutations prevalent in certain regions.
Corrado Angelini, Alicia Aurora Rodriguez   +1 more
exaly   +5 more sources

Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy [PDF]

Scientific Reports, 2023
Sarcoglycanopathy is the most frequent form of autosomal recessive limb-girdle muscular dystrophies caused by mutations in SGCB gene encoding beta-sarcoglycan proteins.
Shamita Sanga, Sudipta Chakraborty, Mainak Bardhan, Kiran Polavarapu, Veeramani Preethish Kumar, Chandrika Bhattacharya, Saraswati Nashi, Seena Vengalil, Thenral S. Geetha, Vedam Ramprasad, Atchayaram Nalini, Analabha Basu, Moulinath Acharya   +12 more
doaj   +3 more sources

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies [PDF]

Annals of Clinical and Translational Neurology
Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset.
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
doaj   +3 more sources

First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy [PDF]

Frontiers in Pediatrics, 2022
BackgroundThe precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as pathogenic non-coding variants and/or complex structural variants do exist in DMD or sarcoglycan genes.
Zhiying Xie, Chengyue Sun, Chang Liu, Xujun Chu, Qiang Gang, Meng Yu, Yiming Zheng, Lingchao Meng, Fan Li, Dongliang Xia, Li Wang, Ying Li, Jianwen Deng, He Lv, Zhaoxia Wang, Wei Zhang, Yun Yuan   +16 more
doaj   +2 more sources

Dysregulated ATX-LPA and YAP/TAZ signaling in dystrophic Sgcd −/− mice with early fibrosis and inflammation [PDF]

Skeletal Muscle
Background Sarcoglycanopathies are muscle dystrophies caused by mutations in the genes encoding sarcoglycans (α, β, γ, and δ) that can destabilize the dystrophin-associated glycoprotein complex at the sarcolemma, leaving muscle fibers vulnerable to ...
Cristian Gutiérrez-Rojas, Adriana Córdova-Casanova, Jennifer Faundez-Contreras, Meilyn Cruz-Soca, Felipe S. Gallardo, Alexia Bock-Pereda, Juan Carlos Casar, Elisabeth R. Barton, Enrique Brandan   +8 more
doaj   +2 more sources

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region [PDF]

Italian Journal of Pediatrics
Background Limb Girdle Muscular Dystrophy (LGMD) is a heterogeneous group of muscle diseases that are common in childhood. This study aimed to determine the clinical, histopathological, genetic features characteristics of among pediatric patients with ...
Duygu Güner Özcanyüz, Gülen GüL Mert, Neslihan Özcan, Serap Bilge, Faruk İncecik, Suzan Zorludemir, Sevcan Tuğ Bozdoğan, Mihriban Özlem Hergüner   +7 more
doaj   +2 more sources

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing. [PDF]

Mol Genet Genomic Med
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Rahmuni Y, Ratbi I, Lyahyai J, Jaouad IC, Batta O, Sbiti A, Sahli M, Askander O, Rchiad Z, Sefiani A.   +9 more
europepmc   +2 more sources

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9. [PDF]

Ann Clin Transl Neurol
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Miller CL, Coffey LN, Mockler SRH, Laubscher KM, Stephan CM, Zimmerman MB, Mathews KD.   +6 more
europepmc   +2 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

Prognostic value of right ventricular–pulmonary artery coupling in patients with muscular dystrophies [PDF]

Scientific Reports
Muscular dystrophies can affect the heart and the respiratory system. Right ventricular‒pulmonary artery (RV‒PA) coupling may reflect right ventricular adaptation to respiratory status.
Abdallah Fayssoil, Nicolas Mansencal, Cendrine Chaffaut, Karim Wahbi, Frederic Lofaso, Helene Prigent, David Orlikowski, Bernard Clair, Pascal Laforet, Guillaume Bassez, Anthony Behin, Bertrand Fontaine, Henri -Marc Becane, Denis Duboc, Olivier Dubourg, Sylvie Chevret, Djillali Annane, Tanya Stojkovic   +17 more
doaj   +2 more sources