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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Detalhes bibliográficos

Principais autores:	Luyan Zhang, Fan Yang, Mei Chen, Ming Zhou, Tianwei Qian, Mohammed Omer Mujtaba, Abdul Haseeb Mohammed, Jie Yin, Xueying Cheng, Jinlong Chen, Yuming Qin, Shiwei Yang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2021-01-01
coleção:	Frontiers in Genetics
Assuntos:	Danon disease LAMP2 MYH7 hypertrophic cardiomyopathy genetics
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fgene.2020.589838/full
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