Details

Autor(en) / Beteiligte

• Grzybowski, Michelle
• Schänzer, Anne
• Pepler, Alexander
• Heller, Corina
• Neubauer, Bernd A
• Hahn, Andreas

Titel

Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy

Ist Teil von

• Neuropediatrics, 2017-12, Vol.48 (6), p.451-455

Ort / Verlag

Germany

Erscheinungsjahr

2017

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 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 mutations should be taken into account as a potential cause of malignant hyperthermia.