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Article

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

Neuropediatrics - 1 Dec 2017

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

Abstract excerpt

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...

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Identifiers

PMID: 28411587
DOI: 10.1055/s-0037-1601868

Genes

STAC3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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