A carregar...
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...
Na minha lista:
| Publicado no: | Mol Genet Metab Rep |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2015
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4750614/ https://ncbi.nlm.nih.gov/pubmed/26937396 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.03.007 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|