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Article

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.

The Journal of clinical investigation - 1 Jul 2009

Goldfarb Lev G, Dalakas Marinos C

Abstract excerpt

Muscle fiber deterioration resulting in progressive skeletal muscle weakness, heart failure, and respiratory distress occurs in more than 20 inherited myopathies. As discussed in this Review, one of the newly identified myopathies is desminopathy, a disease caused by dysfunctional mutations in desmin, a type III intermediate filament protein, or alphaB-crystallin, a chaperone for desmin. The range of clinical...

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alpha-Crystallin B Chain
Cardiomyopathies
Desmin
Disease Models, Animal
Muscular Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Structure, Secondary

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Identifiers

PMID: 19587455
DOI: 10.1172/JCI38027
PMCID: PMC2701871

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