A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia

This study was aimed to detect a new mutation responsible for X-linked dilated cardiomyopathy with hyper-CKemia. We studied a proband who presented with cardiac symptoms with hyper-CKemia, but no clinical skeletal involvement in physical examination, laboratory tests, electromyography, echocardiogra...

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Detalles Bibliográficos
Autores principales: Tang, Jin, Song, Xueqin, Ji, Guang, Wu, Hongran, Sun, Shuyan, Lu, Shan, Li, Yuan, Zhang, Chi, Zhang, Huiqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6024070/
https://www.ncbi.nlm.nih.gov/pubmed/29901616
http://dx.doi.org/10.1097/MD.0000000000011074

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