Myofibrillar myopaathy
نویسندگان
چکیده
منابع مشابه
Mitochondrial dysfunction in myofibrillar myopathy
Myofibrillar myopathies (MFM) are characterised by focal myofibrillar destruction and accumulation of myofibrillar elements as protein aggregates. They are caused by mutations in the DES, MYOT, CRYAB, FLNC, BAG3, DNAJB6 and ZASP genes as well as other as yet unidentified genes. Previous studies have reported changes in mitochondrial morphology and cellular positioning, as well as clonally-expan...
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 کاملOptical diffraction studies of myofibrillar structure.
We have used the techniques of optical diffraction and optical filtering to study electron micro graphs of myofibrils and of paracrystals of myofibrillar proteins. The optical diffraction patterns provide information about periodic structure in the micrographs, and sometimes may reveal periodicities not apparent to the eye. We compare the optical diffraction patterns with the X-ray diffraction...
متن کاملCalcium requirements for cardiac myofibrillar activation.
The amounts of calcium required to achieve various levels of myofibrillar activation in the dog heart were determined by measuring the dependence of myofibrillar calcium binding, myofibrillar adenosinetriphosphatase (ATPase), and isometric tension on free calcium concentration. Myofibrillar ATPase was half-maximal at 2.4 x lO^M free calcium, and tension development was half-maximal at 2.0 x 10~...
متن کاملGenetic Regulation of Myofibrillar Protein Synthesis
Myogenic development can be characterized as three broad stages: Determination of a multipotential stem cell into a cell that is irreversibly committed into the myogenic lineage, Differentiation during which myoblasts develop into multinucleated myofibers expressing muscle-specific proteins, and Maturation of the muscle fiber which involves expression of the isoforms unique for specialized func...
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ژورنال
عنوان ژورنال: Rinsho Shinkeigaku
سال: 2013
ISSN: 0009-918X,1882-0654
DOI: 10.5692/clinicalneurol.53.1105