نتایج جستجو برای: myofibrillar myopathy
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Myofibrillar myopathies are a group of muscle disorders characterized by the disintegration of skeletal muscle fibers and formation of sarcomeric protein aggregates. All the proteins known to be involved in myofibrillar myopathies localize to a region of the sarcomere known as the Z-disk, the site at which defects are first observed. Given the common cellular phenotype observed in this group of...
RATIONALE A homozygous disruption or genetic mutation of the bag3 gene, a member of the Bcl-2-associated athanogene (BAG) family proteins, causes cardiomyopathy and myofibrillar myopathy that is characterized by myofibril and Z-disc disruption. However, the detailed disease mechanism is not yet fully understood. OBJECTIVE bag3(-/-) mice exhibit differences in the extent of muscle degeneration...
3-Methylhistidine excretion as an index of myofibrillar protein catabolism in neuromuscular disease.
Myofibrillar protein catabolism has been calculated in a variety of neuromuscular diseases from the amount of 3-methylhistidine excreted in the urine. It was found to be significantly raised in Duchenne type muscular dystrophy, motor neurone disease, polymyositis, and thyrotoxic myopathy. In Becker type muscular dystrophy the level was slightly raised. It was normal in scapuloperoneal and limb...
Myotilin is a muscle-specific Z-disc protein with putative roles in myofibril assembly and structural upkeep of the sarcomere. Several myotilin point mutations have been described in patients with limb-girdle muscular dystrophy type 1A (LGMD1A), myofibrillar myopathy (MFM), spheroid body myopathy (SBM), three similar adult-onset, progressive and autosomal dominant muscular dystrophies. To furth...
Lindqvist, J. 2014. Cellular and Molecular Mechanisms Underlying Congenital Myopathy-related Weakness. Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 977. 45 pp. Uppsala: Acta Universitatis Upsaliensis. ISBN 978-91-554-8894-9. Congenital myopathies are a rare and heterogeneous group of diseases. They are primarily characterised by skeletal muscle weakness ...
Long-term starvation induces an increase in the protein degradation of skeletal muscle in human and laboratory animals.t'9) Rats subjected to refeeding have demonstrated a reduction in the rate of muscle pretein degradation.'・3・5・6・S・") This decrease in degradation due to refeeding is associated with changes in the plasma concentration of many hormones such as insulin, insulinIike growth factor...
Mutations in the skeletal muscle α-actin gene (ACTA1) cause congenital myopathies including nemaline myopathy, actin aggregate myopathy and rod-core disease. The majority of patients with ACTA1 mutations have severe hypotonia and do not survive beyond the age of one. A transgenic mouse model was generated expressing an autosomal dominant mutant (D286G) of ACTA1 (identified in a severe nemaline ...
Filamin C (FLNC) mutations in humans cause myofibrillar myopathy (MFM) and cardiomyopathy, characterized by protein aggregation and myofibrillar degeneration. We generated the first patient-mimicking knock-in mouse harbouring the most common disease-causing filamin C mutation (p.W2710X). These heterozygous mice developed muscle weakness and myofibrillar instability, with formation of filamin C-...
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