Desmin, Mechanics and Myofibrillar Myopathies
نویسندگان
چکیده
منابع مشابه
Two Desmin Gene Mutations Associated with Myofibrillar Myopathies in Polish Families
Desmin is a muscle-specific intermediate filament protein which forms a network connecting the sarcomere, T tubules, sarcolemma, nuclear membrane, mitochondria and other organelles. Mutations in the gene coding for desmin (DES) cause skeletal myopathies often combined with cardiomyopathy, or isolated cardiomyopathies. The molecular pathomechanisms of the disease remain ambiguous. Here, we descr...
متن کاملBiomechanical characterization of myofibrillar myopathies.
Myofibrillar myopathies (MFMs) are a group of sporadic and hereditary skeletal muscle diseases, which lead to severe physical disability and premature death. Most MFMs are caused by mutations in genes encoding desmin, plectin, VCP, filamin C, BAG3, FHL-1, αB-crystallin, DNAJB6, myotilin, and ZASP. Biomechanical studies on primary human myoblasts carrying desmin and plectin mutations showed incr...
متن کاملMyofibrillar Myopathies and the Z-Disk Associated Proteins
Myofibrillar myopathies (MFMs) are typically autosomal dominant myopathies with late onset progressive muscle weakness and symptoms initially evident in the distal muscle groups. However, there is a significant variability in the presentation of these diseases, with the age of onset ranging from infantile to late seventies; the involvement of the heart, respiratory muscles, distal or proximal m...
متن کاملProtein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study.
UNLABELLED Protein aggregation has been identified in muscle fibres and, thus, in certain neuromuscular disorders. There are certain similarities between IBM and DRM: midlife or late-onset clinical symptoms, apparently of both sporadic and genetic background, morphologically autophagocytosis by vacuole formation, which is frequent in IBM though rare in DRM, and presence of tubulofilamentous agg...
متن کاملThe Muscle Cytoskeleton of Mice and Men Structural remodelling in desmin myopathies
.................................................................................. 5 ABBREVIATIONS........................................................................... 6 ORIGINAL PAPERS........................................................................ 7 INTRODUCTION........................................................................... 8 The muscle fibre cytoskeleton...............
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Biophysical Journal
سال: 2014
ISSN: 0006-3495
DOI: 10.1016/j.bpj.2013.11.2027