Cardiomyopathy and Myosin Studies

Abstract Titin molecules of skeletal muscle actived muscle gene expression produce active force during passive stiffness indirectly in spring properties. To that the titin activation determines on passive sarcomeres role and active force during molecular lengthening in myofibrils. Titin directly of thick (myosin) and…

Abstract Titin molecules of skeletal muscle actived muscle gene expression produce active force during passive stiffness indirectly in spring properties. To that the titin activation determines on passive sarcomeres role and active force during molecular lengthening in myofibrils. Titin directly of thick (myosin) and…

Abstract Background Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by biallelic SMN1 deletion or mutation, leading to degeneration of anterior horn motor neurons. Newborn screening enables presymptomatic diagnosis, and timely initiation of disease-modifying therapy is associated with impr…

OBJECTIVES: Limited guidance on the use and interpretation of cardiac troponin (cTn) testing in pediatric populations has restricted its broader adoption, despite the significant burden of congenital and acquired cardiac conditions in children. This survey aimed to evaluate global availability, utilization patterns, a…

Background Diagnosing facioscapulohumeral muscular dystrophy (FSHD) requires integrated evaluation of D4Z4 repeat size, permissive haplotype status, epigenetic context and alternative molecular aetiologies, particularly in borderline, non-contracted or structurally complex cases. Methods We evaluated 135 unrelated ref…

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ABS TRACT This case report presents a 36-year-old female presenting with burning lower extremity pain, proximal muscle weakness, and imbalance.Her clinical examination revealed diffuse proximal weakness, with mild distal involvement, and left ptosis.Routine laboratory and imaging results were unremarkable, and electro…

Abstract Although microtubules (MT) are established regulators of striated muscle mechanics, how MT lattice organization and post-translational modifications (PTM) individually shape contractility in healthy skeletal muscle fibers remains incompletely understood. We used an ex vivo single muscle fiber culture under un…

Aging leads to a progressive loss of muscle mass and strength, termed sarcopenia, which is accelerated by inactivity and exacerbated by intrinsic cellular and molecular dysfunctions within the muscle fiber. Central to these changes is mechanotransduction, the process by which mechanical stimuli are converted into bioc…

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Abstract Aim: Cardiac complications significantly contribute to mortality in Duchenne muscular dystrophy patients. Early detection of cardiac involvement is crucial for optimising therapeutic interventions. This study aimed to evaluate the role of N -terminal pro-brain natriuretic peptide in detecting cardiac involvem…

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