Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin

Desminopathy is a genetically heterogeneous disorder with autosomal dominant pattern of inheritance in most affected families; the age of disease onset is on average 30 years. We studied a patient with a history of recurrent episodes of syncope from infancy who later developed second-degree AV block...

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Hlavní autoři: Piñol-Ripoll, Gerard, Shatunov, Alexey, Cabello, Ana, Larrodé, Pilar, de la Puerta, Iris, Pelegrín, Juana, Ramos, Feliciano J, Olivé, Montse, Goldfarb, Lev G
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2695848/
https://ncbi.nlm.nih.gov/pubmed/19433360
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2009.04.004
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