TY - JOUR AU - Grzybowski, Michelle; Schänzer, Anne; Pepler, Alexander; Heller, Corina; Neubauer, Bernd A.; Hahn, Andreas TI - Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy SN - 0174-304X SN - 1439-1899 PY - 2017 JO - Neuropediatrics JF - Neuropediatrics LA - EN VL - 48 IS - 06 SP - 451 EP - 455 ET - 2017/04/15 DA - 2017/11/09 KW - congenital myopathy KW - early-onset scoliosis KW - STAC3 gene KW - malignant hyperthermia AB - Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor one single homozygous mutation (c.1046G>C, pW284S) in the STAC3 gene, encoding a protein important for proper excitation–contraction coupling in muscle. Here, we report the first non-Amerindian patient of Turkish ancestry, being compound heterozygous for the mutations c.862A>T (p.K288*) and c.432+4A>T (aberrant splicing with skipping of exon 4). Symptoms in NAM include congenital muscle weakness and contractures, progressive scoliosis, early ventilatory failure, a peculiar facial gestalt with mild ptosis and downturned corners of the mouth, short stature, and marked susceptibility to malignant hyperthermia. This case shows that NAM should also be considered in non-Indian patients with congenital myopathy, and suggests that STAC3 mutations should be taken into account as a potential cause of malignant hyperthermia. PB - Georg Thieme Verlag KG DO - 10.1055/s-0037-1601868 UR - http://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0037-1601868 ER -