Desmin-related myopathies.
Desmin-related myopathies are marked by accumulation of desmin, which is often familial and associated with cardiomyopathy. When multifocal this excess is characterized by inclusions such as cytoplasmic or spheroid bodies, when disseminated the excess is called granulofilamentous material. Excess of desmin might represent an abnormal type of protein metabolism.
Goebel
H H
HH
Department of Neuropathology, Johannes-Gutenberg University Medical Center, Mainz, Germany.
D008841:Actin Cytoskeleton / Q000473:pathology; D000328:Adult; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003893:Desmin / Q000235:genetics*; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009206:Myocardium / Q000473:pathology
D003893:Desmin