Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Congenital nervous system disorder · Autosomal recessive limb-girdle muscular dystrophy · Disorder of protein O-glycosylation
Autosomal recessive limb-girdle muscular dystrophy type 2R1
An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients.
This condition has no sub-types.