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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>...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
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| Materias: | |
| 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 |