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Significance Skeletal muscle contractions are regulated by a process called excitation–contraction (EC) coupling, and defects in it are associated with numerous human myopathies. Recently,stac3 (SH3 and cysteine-rich domain 3) was identified as a key regulator of EC coupling and aSTAC3 mutation as causal for the debilitating Native American myopathy (NAM). We now show that Stac3 controls EC coupling by regulating Ca2+ channels in muscles. Both the NAM mutation and a mutation that leads to the loss of Stac3 decrease the amount, organization, stability, and voltage sensitivity of Ca2+ channels. Furthermore, we find evidence that the NAM allele ofSTAC3 is linked to malignant hyperthermia, a common pharmacogenic disorder. These findings define critical roles for Stac3 in muscle contraction and human disease.

Congenital myopathy results from misregulation of a muscle Ca 2+ channel by mutant Stac3

Congenital myopathy results from misregulation of a muscle Ca ²⁺ channel by mutant Stac3