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Native American myopathy
Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.
ORPHA:168572Classification level: Disorder
NAM is reported exclusively in Native American Indians (Lumbee Indian population of North Carolina). Within this population, the prevalence of NAM is estimated at approximately 1:5,000.
The NAM locus has been localized to 12q13.13-14.1.
The disease is transmitted in an autosomal recessive manner.
- Clinical genetics review
- English (2019)