Condition: Native American myopathy


rs140291094 in STAC3 gene and Native American myopathy PMID 23736855 2013 Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.

PMID 29078335 2017 Structural insights into binding of STAC proteins to voltage-gated calcium channels.

PMID 28777491 2017 Horstick et al.(2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).

PMID 28411587 2017 Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.

PMID 28777491 2017 Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.