Abstract
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.
Publication types
-
Research Support, Non-U.S. Gov't
-
Review
MeSH terms
-
Actin Cytoskeleton / pathology
-
Adult
-
Cardiomyopathies / diagnosis
-
Cardiomyopathies / genetics
-
Cardiomyopathies / pathology
-
Child
-
Chromosome Aberrations / genetics
-
Chromosome Disorders
-
Desmin / genetics*
-
Genes, Dominant
-
Genes, Recessive
-
Humans
-
Inclusion Bodies / pathology
-
Muscle, Skeletal / pathology
-
Muscular Diseases / diagnosis
-
Muscular Diseases / genetics*
-
Muscular Diseases / pathology
-
Myocardium / pathology