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

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 a STAC3 mutation as causal for the debilitating Native American myopathy (NAM). We now show that Stac3 controls EC coupling by regulating Ca 2+ channels in muscles....