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Usage Information

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease
Lev G. Goldfarb, Marinos C. Dalakas
Lev G. Goldfarb, Marinos C. Dalakas
Published July 1, 2009
Citation Information: J Clin Invest. 2009;119(7):1806-1813. https://doi.org/10.1172/JCI38027.
View: Text | PDF | Corrigendum
Review Series Article has an altmetric score of 2

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

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Abstract

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 αB-crystallin, a chaperone for desmin. The range of clinical manifestations in patients with desminopathy is wide and may overlap with those observed in individuals with other myopathies. Awareness of this disease needs to be heightened, diagnostic criteria reliably outlined, and molecular testing readily available; this would ensure prevention of sudden death from cardiac arrhythmias and other complications.

Authors

Lev G. Goldfarb, Marinos C. Dalakas

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