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Limb-Girdle Muscular Dystrophy Type 2 Caused by a Novel Homozygous Mutation in DYSF in a Consanguineous Family.
Int J Rheum Dis
March 2025
Department of Rheumatology and Immunology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.
Acta Neuropathol Commun
March 2025
Department of Medical Genetics, School of Basic Medical Science, Southern Medical University, Guangzhou, 510515, China.
Limb-girdle muscular dystrophy R8 (LGMD R8) is a hereditary muscle disease caused by biallelic defects in E3 ubiquitinated ligase gene (TRIM32). LGMD R8 is featured by high genetic heterogeneity and phenotypic diversity, most pathogenic variants are missense variants located in the NHL domain, but the genotype-phenotype correlation remains unclear. We hypothesized that various missense variants in NHL domain might have different degrees of impact on the structure and function of the protein, thus resulting in disease variability.
View Article and Find Full Text PDFPhysical training of wheelchair users with neuromuscular disorders: A systematic review.
J Neuromuscul Dis
March 2025
Copenhagen Neuromuscular Center, section 8077, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark.
Objective: Wheelchair users with neuromuscular disorders have symptoms related to the disease and complications to the sedentary lifestyle, such as constipation and lower back pain. Physical training might be beneficial. This systematic review investigates the potential benefits and harms of physical training for wheelchair users with neuromuscular disorders.
View Article and Find Full Text PDFTitinopathies: Phenotype - genotype heterogeneity in an Indian cohort.
J Neuromuscul Dis
March 2025
Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, Karnataka, India.
Introduction: Titinopathies are heterogenous group of disorders affecting the skeletal and cardiac muscles variably and caused by Titin ( gene mutations located in Chromosome 2. The manifestations extend from congenital to adult-onset myopathies. Here we describe the phenotype-genotype heterogeneity of patients with myopathy/muscular dystrophy associated with TTN variants in an Indian cohort.
View Article and Find Full Text PDFMetabolic dysregulation contributes to the development of dysferlinopathy.
Life Sci Alliance
May 2025
Biozentrum, University of Basel, Basel, Switzerland
Dysferlin is a transmembrane protein that plays a prominent role in membrane repair of damaged muscle fibers. Accordingly, mutations in the dysferlin gene cause progressive muscular dystrophies, collectively referred to as dysferlinopathies for which no effective treatment exists. Unexpectedly, experimental approaches that successfully restore membrane repair fail to prevent a dystrophic phenotype, suggesting that additional, hitherto unknown dysferlin-dependent functions contribute to the development of the pathology.
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