Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Xiafei Dai"'
Autor:
Xiafei Dai, Rong Luo, Yang Chen, Chenqing Zheng, Yibin Tang, Hongmei Zhang, Ye Su, Tao He, Xiaoping Li
Publikováno v:
Case Reports in Genetics, Vol 2020 (2020)
This case reports a novel hemizygous frameshift EMD mutation (c.487delA, p.Ser163fs) in twins of an Emery–Dreifuss muscular dystrophy family with severe cardiac involvement and mild muscle weakness. Their mother carried the same heterozygous mutati
Externí odkaz:
https://doaj.org/article/97c411ccb10543aebdf8e9589f84be38
Autor:
Rong Luo, Chenqing Zheng, Xiaoping Li, Tao He, Xiafei Dai, Hongmei Zhang, Ye Su, Yibin Tang, Yang Chen
Publikováno v:
Case Reports in Genetics, Vol 2020 (2020)
Case Reports in Genetics
Case Reports in Genetics
This case reports a novel hemizygous frameshift EMD mutation (c.487delA, p.Ser163fs) in twins of an Emery–Dreifuss muscular dystrophy family with severe cardiac involvement and mild muscle weakness. Their mother carried the same heterozygous mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b8434e92aa2dfebcea57460d4277442
https://doi.org/10.1155/2020/2071738
https://doi.org/10.1155/2020/2071738
Autor:
Xiafei Dai, Huihui Ma, Xiaoping Li, Chenqing Zheng, Yibin Tang, Chao Yan, Xuepin Chen, Hongmei Zhang
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2019)
Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2019)
Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked recessive disease characterized by the clinical triad of early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death. Targeted
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a438d3a12fabfc27d36955b779f3f82a
http://europepmc.org/articles/PMC6804839
http://europepmc.org/articles/PMC6804839
Autor:
Hongmei Zhang, Hui Peng, Chenqing Zheng, Xiafei Dai, Xiaoping Li, Chao Yan, Huihui Ma, Xuepin Chen
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2019)
Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2019)
Arrhythmogenic right ventricular cardiomyopathy (ARVC) presents as the progressive fibrofatty replacement of the cardiomyocytes particularly in the right ventricular wall. Here, we report two cases with ARVC. In family A, the proband carries a Desmog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efdf041cd85f45ac69704dc9483b8749
http://europepmc.org/articles/PMC6804664
http://europepmc.org/articles/PMC6804664