Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility

The genetic cause(s) of malignant hyperthermia and exertional heat illness are unknown in approximately 30% of cases. To address this barrier, the authors performed genome sequencing on a large cohort of cases, identifying rare variants in ASPH, a gene encoding junctin, and validating them in animal...

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Detalhes bibliográficos

Principais autores:	Yukari Endo, Linda Groom, Alper Celik, Natalia Kraeva, Chang Seok Lee, Sung Yun Jung, Lois Gardner, Marie-Anne Shaw, Susan L. Hamilton, Philip M. Hopkins, Robert T. Dirksen, Sheila Riazi, James J. Dowling
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Nature Portfolio 2022-06-01
coleção:	Nature Communications
Acesso em linha:	https://doi.org/10.1038/s41467-022-31088-8
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