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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...
Autores principales: | Zhou, Junfeng, Li, Hui, Li, Xiangping, Li, Yonggui, Yang, Mei, Shi, Gaoxing, Xu, Danyan, Shi, Xiaoliu |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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Materias: | |
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 |
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