Native American myopathy
From SNPedia
Native American myopathy, also known as NAM, is an autosomal recessive disorder found within the Lumbee Native American population of North Carolina in the United States. NAM has been characterized by a combination of clinical features, including congenital onset of muscle weakness, susceptibility to malignant hyperthermia, multiple joint contractures and dysmorphic facial features including ptosis.
A region on chromosome 12 was associated in 2008 with NAM. In 2013, a mutation was identified, specifically:
- rs140291094, also known as W284S in the STAC3 gene
