Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance

OBJECTIVE: The aim of the present study was to determine whether pathogenic mutations were present in families with mitochondrial cardiomyopathy that presented during adolescence. METHODS: The proband was a 21-year-old man who presented clinically with palpitations, chest tightness, pulmonary hypert...

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Detalles Bibliográficos
Autores principales: Zhou, Nianwei, Tang, Lu, Jiang, Yingying, Qin, Shengmei, Cui, Jie, Wang, Yanan, Zhu, Wenqing, Zhao, Weipeng, Pan, Cuizhen, Shu, Xianhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kare Publishing 2019
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382902/
https://www.ncbi.nlm.nih.gov/pubmed/30587702
http://dx.doi.org/10.14744/AnatolJCardiol.2018.53258

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