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J Clin Invest. 2009 Jul;119(7):1806-13. doi: 10.1172/JCI38027. Epub 2009 Jul 1.

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

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1
National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA. goldfarbl@ninds.nih.gov

Erratum in

  • J Clin Invest. 2011 Jan 4;121(1):455.

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 alphaB-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.

PMID:
19587455
PMCID:
PMC2701871
DOI:
10.1172/JCI38027
[Indexed for MEDLINE]
Free PMC Article
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