Desmin-related myopathies

6533b7defe1ef96bd1275d24

RESEARCH PRODUCT

Desmin-related myopathies

subject

Adult Pathology medicine.medical_specialty Granulofilamentous material Cardiomyopathy Chromosome Disorders Genes Recessive macromolecular substances Biology Desmin Muscular Diseases medicine Humans Child Muscle Skeletal Genotype-Phenotype Correlations Genes Dominant Chromosome Aberrations Inclusion Bodies DESMIN-RELATED MYOPATHY Myocardium Molecular pathogenesis musculoskeletal system medicine.disease Actin Cytoskeleton Neurology Cytoplasm Desmin Neurology (clinical)Cardiomyopathies

description

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.

year	journal	country	edition	language
1997-10-23	Current Opinion in Neurology

https://doi.org/10.1097/00019052-199710000-00012

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