Results 11 to 20 of about 713 (148)

Age, muscle, and gender specific characterization of muscle degeneration in a mouse model of calpainopathy [PDF]

Scientific Reports
Establishing well-described mouse models of hereditary diseases is increasingly important for testing new therapeutic approaches, such as gene replacement therapy.
Nicolina Südkamp, Jacqueline Heinen-Weiler, Marlena Rohm, Michaela Zaik, Nassam Daya, Anne-Katrin Güttsches, Carsten Theiss, Andreas Roos, Tobias Ruck, Frank Jacobsen, Lara Schlaffke, Matthias Vorgerd   +11 more
doaj   +5 more sources

A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort. [PDF]

Turk J Med Sci
Calpainopathy, also known as limb-girdle muscular dystrophy recessive type 1, is a progressive muscle disorder that impacts the muscles around the hips and shoulders. The disease is caused by defects in the CAPN3 gene and can be inherited in both recessive and dominant forms.
Şahin İO, Karataş E, Demir M, Tan B, Per H, Özkul Y, Dündar M.   +6 more
europepmc   +4 more sources

Case report: A single novel calpain 3 gene variant associated with mild myopathy [PDF]

Frontiers in Genetics
Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described.
Sara Massucco, Paola Fossa, Chiara Fiorillo, Elena Faedo, Chiara Gemelli, Rita Barresi, Michela Ripolone, Serena Patrone, Andrea Gaudio, Paola Mandich, Paola Mandich, Fabio Gotta, Serena Baratto, Monica Traverso, Livia Pisciotta, Livia Pisciotta, Federico Zaottini, Mattia Camera, Elena Scarsi, Marina Grandis, Marina Grandis   +20 more
doaj   +2 more sources

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

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   +2 more sources

Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency. [PDF]

Hum Mutat
Abstract: Limb–girdle muscular dystrophy Type 2A/R1 or calpain‐3 deficiency is the most common autosomal recessive limb–girdle muscular dystrophy. However, in recent years, autosomal dominant cases and families with calpain‐3 deficiency have been reported, and there is an emerging interest in looking for single variants in the calpain‐3 gene in mildly ...
Krag T, Nasho E, Brady L, Verebi C, Leturcq F, Malfatti E, Duno M, Tarnopolsky M, Vissing J.   +8 more
europepmc   +2 more sources

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings. [PDF]

Hum Mutat
Limb‐girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of neuromuscular disorders characterized by overlapping clinical features, including progressive muscle weakness and wasting, elevated creatine kinase (CK) levels, and motor and skeletal abnormalities.
Yousaf H, Khalid LB, Ahmed A, Ghumman RZ, Hassan S, Zahra H, Zafar G, Rubab K, Azakai H, Khan HN, Mahmood Q, Ali A, Mian BA, Ali Z, Raza M, Bano S, Mukhtiar K, Abdullah U, Ibrahim SH, Baig SM, Toft M, Kirmani S, Iqbal Z, Fatima A.   +23 more
europepmc   +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

Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent [PDF]

Annals of Indian Academy of Neurology
Background and Objectives: Diagnosing myopathy subtypes is challenging due to clinical and genetic heterogeneity. While muscle magnetic resonance imaging (MRI) enables pattern recognition, standardized imaging data from India are lacking.
Shariq Ahmad Shah, Venugopalan Y Vishnu, Leve Joseph Devaranjan Sebastian, Ajay Garg   +3 more
doaj   +2 more sources

Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping [PDF]

Genes
Purpose: An investigation for the co-occurrence of two unrelated genetic disorders of muscular dystrophy and Prader-Willi syndrome (PWS) (OMIM#176270) using joint whole genome sequencing (WGS).
Büsra Ünal, Arezou A Ghazani, Mario Cuk   +2 more
exaly   +3 more sources

From Variant Interpretation to Biomarker Translation: Multi-omics Integration in Inherited Neuromuscular Diseases. [PDF]

Hum Mutat
Genetic neuromuscular diseases are highly heterogeneous disorders characterized by diagnostic challenges and limited therapeutic options, underscoring an urgent need for precise biomarkers. The rapid advancement of multi‐omics technologies has broadened biomarker discovery from single genomics to multidimensional integrative analyses encompassing ...
Zhang S, Lang X, Liu L.
europepmc   +2 more sources