A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein

BACKGROUND: Danon disease is an X‐linked dominant hereditary condition caused by mutations in the gene encoding lysosomal‐associated membrane protein 2 (LAMP2), leading to failure of lysosome binding to autophagosomes, accumulation of glycogen in the heart, and abnormal cardiac function. METHODS: We...

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Detalles Bibliográficos
Autores principales: Zhou, Nianwei, Cui, Jie, Zhao, Weipeng, Jiang, Yingying, Zhu, Wenqing, Tang, Lu, Li, Xuejie, Sun, Minmin, Pan, Cuizhen, Shu, Xianhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418376/
https://www.ncbi.nlm.nih.gov/pubmed/30714332
http://dx.doi.org/10.1002/mgg3.561

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