نتایج جستجو برای: mitochondrial myopathies
تعداد نتایج: 134607 فیلتر نتایج به سال:
Ullrich congenital muscular dystrophy and Bethlem myopathy are skeletal muscle diseases that are due to mutations in the genes encoding collagen VI, an extracellular matrix protein forming a microfibrillar network that is particularly prominent in the endomysium of skeletal muscle. Myoblasts from patients affected by Ullrich congenital muscular dystrophy display functional and ultrastructural m...
Maintenance of DNA integrity is crucial for faithful transmission the genetic code from generation to generation. Our constantly under attack both endogenous and exogenous sources damage. To ensure genome stability, cells have developed elegant damage repair mechanisms. Defects in been linked several human diseases including promoting oncogenesis, heritable neurodegenerative neuromuscular cause...
Abstract Background Muscle biopsies are important diagnostic procedures in neuromuscular practice. Recent advances genetic analysis have profoundly modified Myopathology diagnosis. Main body The main goals of this review are: (1) to describe muscle biopsy techniques for non specialists; (2) provide practical information the team involved diagnosis diseases; (3) report fundamental rules site cho...
Mutations in the RYR1 gene cause severe myopathies. Mice with an I4895T mutation in the type 1 ryanodine receptor/Ca2+ release channel (RyR1) display muscle weakness and atrophy, but the underlying mechanisms are unclear. Here we show that the I4895T mutation in RyR1 decreases the amplitude of the sarcoplasmic reticulum (SR) Ca2+ transient, resting cytosolic Ca2+ levels, muscle triadin content ...
Background: Neural cell adhesion molecule (N-CAM), or CD56, is a cell-surface glycoprotein that plays critical role in mediating intercellular the central nervous system. It also found to be expressed on embryonic muscle but disappears healthy adult muscle. However, denervated regenerating muscles can express N-CAM. Objective: To evaluate value of N-CAM expressions diagnosing diseases Thai popu...
MicroRNAs modulate cellular phenotypes by inhibiting expression of mRNA targets. In this study, we have shown that the muscle-specific microRNAs miR-133a-1 and miR-133a-2 are essential for multiple facets of skeletal muscle function and homeostasis in mice. Mice with genetic deletions of miR-133a-1 and miR-133a-2 developed adult-onset centronuclear myopathy in type II (fast-twitch) myofibers, a...
Rhabdomyolysis is characterized by severe acute muscle injury resulting in muscle pain, weakness, and/or swelling with release of myofiber contents into the bloodstream. Symptoms develop over hours to days after an inciting factor and may be associated with dark pigmentation of the urine. Serum creatine kinase and urine myoglobin levels are markedly elevated. Clinical examination, history, labo...
Mitochondrial DNA (mtDNA) deletions are a common cause of mitochondrial disorders and have been found to accumulate during normal aging. Despite the fact that hundreds of deletions have been characterized at the molecular level, their mechanisms of genesis are unknown. We tested the effect of double-strand breaks of muscle mtDNA by developing a mouse model in which a mitochondrially targeted re...
We describe a 60-year-old man with MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) and discuss the mitochondrial DNA point mutation 3243. A diagnosis of MELAS should be considered in the appropriate clinical setting at any age.
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