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PMID: 17635637 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Primary desminopathies.

Journal of cellular and molecular medicine ·Vol. 11 ·No. 3 ·2007-00-00 ·Pages 416-26

Schröder R, Vrabie A, Goebel HH

Abstract

Mutations of the human desmin gene on chromosome 2q35 cause a familial or sporadic form of skeletal myopathy frequently associated with cardiac abnormalities. Skeletal and cardiac muscle from patients with primary desminopathies characteristically display cytoplasmic accumulation of desmin-immunoreactive material and myofibrillar changes. However, desmin-positive protein aggregates in conjunction with myofibrillar abnormalities are also the morphological hallmark of the large group of secondary desminopathies (synonyms: myofibrillar myopathies, desmin-related myopathies), which comprise sporadic and familial neuromuscular conditions of considerable clinical and genetic heterogeneity. Here, we will give an overview on the functional role of desmin in striated muscle as well as the main clinical, myopathological, genetic and patho-physiological aspects of primary desminopathies. Furthermore, we will discuss recent genetic and biochemical advances in distinguishing primary from secondary desminopathies.

MeSH Terms
Animals Cytoskeleton/pathology Desmin/chemistry,genetics,metabolism,ultrastructure Humans Muscle, Skeletal/pathology Muscular Diseases/complications,pathology,therapy Mutation/genetics Sarcolemma/pathology
Chemicals
Desmin
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Schröder Rolf
Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany. [email protected]
Vrabie Alexandra
Goebel Hans H
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Article Info
Journal
Journal of cellular and molecular medicine
Abbr.
J Cell Mol Med
ISSN
1582-1838
DOI
10.1111/j.1582-4934.2007.00057.x
Email
[email protected]
Published
2007-00-00
Pages
416-26
Language
English
Region
England
NLM ID
101083777
PMCID
PMC3922350
Subset
IM
External Links
PubMed source DOI: 10.1111/j.1582-4934.2007.00057.x PMC Full Text View journal details
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