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Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease
BACKGROUND: Although 21 causative mutations have been associated with PRKAG2 syndrome, our understanding of the syndrome remains incomplete. The aim of this project is to further investigate its unique genetic background, clinical manifestations, and underlying structural changes. METHODS: We recrui...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132172/ https://www.ncbi.nlm.nih.gov/pubmed/32259713 http://dx.doi.org/10.1016/j.ebiom.2020.102723 |