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Article

Primary desminopathies.

Journal of cellular and molecular medicine - 1 Jan 2000

Schröder Rolf, Vrabie Alexandra, Goebel Hans H

Abstract excerpt

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...

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Identifiers

PMID: 17635637
DOI: 10.1111/j.1582-4934.2007.00057.x
PMCID: PMC3922350

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