A novel EMD mutation in a Chinese family with initial diagnosis of conduction cardiomyopathy

INTRODUCTION: Emery–Dreifuss muscular dystrophy (EDMD) is a hereditary myopathy characterized as triad of muscular dystrophy, joint contractures, and conduction cardiomyopathy. In this study, we diagnosed a X‐linked recessive EDMD patient with severe conduction cardiomyopathy while noteless muscular...

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Detalles Bibliográficos
Autores principales: Zhou, Junfeng, Li, Hui, Li, Xiangping, Li, Yonggui, Yang, Mei, Shi, Gaoxing, Xu, Danyan, Shi, Xiaoliu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346415/
https://www.ncbi.nlm.nih.gov/pubmed/30506906
http://dx.doi.org/10.1002/brb3.1167

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346415/
https://www.ncbi.nlm.nih.gov/pubmed/30506906
http://dx.doi.org/10.1002/brb3.1167

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