Clinical and molecular characterization of seven patients with Danon disease

Danon disease is an X-linked glycogen storage disease characterized by skeletal myopathy, cardiomyopathy and intellectual impairment. It is caused by a loss-of-function mutation in the lysosome-associated membrane protein-2 (LAMP2) gene. In the present study, exon and boarding intron analysis of 96...

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Detalles Bibliográficos
Autores principales: Wang, Xuan-Ying, Wang, Bo, Zhu, Xiao-Li, Ma, Zhi-Ling, Liu, Ying, Lei, Chang-Hui, Yang, Qian-Li, Hu, Dan, Zhao, Xue-Li, Liu, Zhi-Rong, Liu, Li-Wen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918051/
https://www.ncbi.nlm.nih.gov/pubmed/33680117
http://dx.doi.org/10.3892/etm.2021.9826

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918051/
https://www.ncbi.nlm.nih.gov/pubmed/33680117
http://dx.doi.org/10.3892/etm.2021.9826

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