Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease

Danon disease (DD) is a rare glycogen storage lysosomal disorder caused by mutations in the LAMP2 gene. Patients with DD are usually characterized clinically by severe multisystem syndromes. We describe a specific family with a novel pathogenic splice-altering mutation in the LAMP2 gene (c.741+2T>...

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Detalles Bibliográficos
Autores principales: Li, Zongzhe, Ma, Fei, Li, Rui, Xiao, Zhichao, Zeng, Hesong, Wang, Dao Wen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8655779/
https://www.ncbi.nlm.nih.gov/pubmed/34901223
http://dx.doi.org/10.3389/fcvm.2021.763240

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8655779/
https://www.ncbi.nlm.nih.gov/pubmed/34901223
http://dx.doi.org/10.3389/fcvm.2021.763240

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