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Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome
(1) Background: Cantu syndrome (CS) arises from gain-of-function (GOF) mutations in the ABCC9 and KCNJ8 genes, which encode ATP-sensitive K(+) (KATP) channel subunits SUR2 and Kir6.1, respectively. Most CS patients have mutations in SUR2, the major component of skeletal muscle KATP, but the conseque...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8307364/ https://www.ncbi.nlm.nih.gov/pubmed/34359961 http://dx.doi.org/10.3390/cells10071791 |