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STAC3 disorder: a common cause of congenital hypotonia in Southern African patients

1 Jun 2024

Abstract excerpt

STAC3 disorder, or Native American myopathy, is characterised by congenital myopathy, hypotonia, musculoskeletal and palatal anomalies, and susceptibility to malignant hyperthermia. A STAC3 c.851 G > C (p.Trp284Ser) pathogenic variant, common in the Lumbee Native American tribe, has been identified in other populations worldwide, including patients of African ancestry. We report on the frequency of STAC3 c.851 G...

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PMID: 38824262
DOI: 10.1038/s41431-024-01644-5

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