Case Report: Identification of Mutations in LAMP2 in Two Chinese Infants With Danon Disease

Danon disease (DD) is a monogenic lysosomal storage disorder characterized by cardiomyopathy, skeletal myopathy, and variable degrees of intellectual disability. It is caused by a deficiency of lysosomal-associated membrane protein 2 (LAMP2). Two unrelated boys who presented with severe hypertrophic...

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Detalles Bibliográficos
Autores principales: Zhang, Luyan, Yang, Fan, Chen, Mei, Zhou, Ming, Qian, Tianwei, Mujtaba, Mohammed Omer, Mohammed, Abdul Haseeb, Yin, Jie, Cheng, Xueying, Chen, Jinlong, Qin, Yuming, Yang, Shiwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7831386/
https://www.ncbi.nlm.nih.gov/pubmed/33505424
http://dx.doi.org/10.3389/fgene.2020.589838

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7831386/
https://www.ncbi.nlm.nih.gov/pubmed/33505424
http://dx.doi.org/10.3389/fgene.2020.589838

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