Population
Italian family with malignant hyperthermia susceptibility, 268 control subjects, and dysgenic (α-null)…
Comparison
Expression of GFP-tagged α(1S)T1354S mutation vs Expression of wild-type GFP-α(1S) (α(1S)WT)
Design
Preclinical
Authors
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May implicate T1354S in MH via altered Ca2+ currents; extends CACNA1S mutations but leaves open human validation.
The T1354S mutation in the CACNA1S gene leads to faster activation of L-type Ca2+ currents and increased caffeine sensitivity, explaining the malignant hyperthermia susceptibility phenotype in an Italian family.
Pirone et al. (2010) studied this question.
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