Article
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
Neuromuscular disorders : NMD - 1 Mar 2012
Wahbi Karim, Béhin Anthony, Charron Philippe, Dunand Murielle, Richard Pascale, Meune Christophe, Vicart Patrick, Laforêt Pascal, Stojkovic Tanya, Bécane Henri Marc, Kuntzer Thierry, Duboc Denis
Abstract excerpt
To determine incidence and type of major cardiac adverse events in patients with mutated desmin (DES) gene, we retrospectively reviewed baseline medical information, and examined the long-term outcomes of 28 DES patients (17 men, baseline mean age=37.7±14.4 years [min=9, max=71]) from 19 families. Baseline studies revealed skeletal muscle involvement in 21 patients and cardiac abnormalities in all but one...
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