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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-01-01
Series:Frontiers in Genetics
Subjects:
Danon disease
LAMP2
MYH7
hypertrophic cardiomyopathy
genetics
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.589838/full

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https://www.frontiersin.org/articles/10.3389/fgene.2020.589838/full

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