Gowri Nayar, Edward Seabolt, et al.
Scientific Reports
Paper
Validation of GNE:p.M712T identification by melting curve analysis
Abstract
Hereditary inclusion body myopathy/distal myopathy with rimmed vacuoles is an adult onset autosomal recessive muscle-wasting disease common in people of Iranian-Jewish descent, due to the founder allelic variant GNE
Related
Toby C. Rodman, Betty J. Flehinger, et al.
Human Genetics
Roger D. Traub, Miles A. Whittington, et al.
Reviews in the Neurosciences
Michal Ozery-Flato, Ella Barkan, et al.
ACS Fall 2025