Fig. 1: Identification of heterozygous, missense junctin variants in four families with EHI/MHS. | Nature Communications

Fig. 1: Identification of heterozygous, missense junctin variants in four families with EHI/MHS.

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

Fig. 1

a Pedigrees of four families with exertional heat illness (EHI) and/or malignant hyperthermia susceptibility (MHS) and with rare junctin variants. Caffeine halothane contracture test (CHCT) results are listed as follows: MHShc = MH susceptible to both halothane and caffeine; MHSh = MH susceptible to halothane alone; MHN = CHCT test negative. N/A = DNA not available for genetic evaluation. Arrow = proband. b Positions of the four junctin variants are shown within the protein domain structures of junctin. The binding sites for RyR1 are also depicted.

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