نتایج جستجو برای: myofibrillar myopathy
تعداد نتایج: 14255 فیلتر نتایج به سال:
HSPB5 (also called αB-crystallin) is a ubiquitously expressed small heat shock protein. Mutations in HSPB5 have been found to cause cataract, but are also associated with a subgroup of myofibrillar myopathies. Cells expressing each of these HSPB5 mutants are characterized by the appearance of protein aggregates of primarily the mutant HSPB5. Like several members of the HSPB family, HSPB5 can fo...
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac muscle disease that affects sarcomeric proteins, resulting in severe hypertrophy, myofibrillar disorganization, and enhanced interstitial fibrosis. The disease is often familial, with autosomal-dominant transmission. More than 100 different mutations in 10 genes that encode sarcomeric proteins have been described (1–3). Hypertrophy typic...
BACKGROUND Desmin-related myofibrillar myopathy (DRM) is a cardiac and skeletal muscle disease caused by mutations in the desmin (DES) gene. Mutations in the central 2B domain of DES cause skeletal muscle disease that typically precedes cardiac involvement. However, the prevalence of DES mutations in dilated cardiomyopathy (DCM) without skeletal muscle disease is not known. METHODS AND RESULT...
Ariel is a mouse mutant that suffers from skeletal muscle myofibrillar degeneration due to the rapid accumulation of large intracellular protein aggregates. This fulminant disease is caused by an ENU-induced recessive mutation resulting in an L342Q change within the motor domain of the skeletal muscle myosin protein MYH4 (MyHC IIb). Although normal at birth, homozygous mice develop hindlimb par...
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