An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine

We describe a young girl with dilated cardiomyopathy, long QT syndrome, and possible energy deficiency. Two major sequence changes were identified by whole exome sequencing (WES) and mitochondrial DNA analysis that were interpreted as potentially causative. Changes were identified in the KCNH2 gene...

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Detalles Bibliográficos
Autores principales: Guillen Sacoto, Maria J., Chapman, Kimberly A., Heath, Deneen, Seprish, Mary Beth, Zand, Dina J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750614/
https://www.ncbi.nlm.nih.gov/pubmed/26937396
http://dx.doi.org/10.1016/j.ymgmr.2015.03.007

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