Autosomal recessive limb-girdle muscular dystrophy type 2R1

Definition

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.

Also known as autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1, autosomal recessive limb-girdle muscular dystrophy type 2Z, LGMD2Z, limb-girdle muscular dystrophy type 2Z, muscular dystrophy, limb-girdle, autosomal recessive 21, muscular dystrophy, limb-girdle, type 2Z, POGLUT1 autosomal recessive limb-girdle muscular dystrophy — per MONDO

Also identified as

• DOID 0080762 per MONDO
• NCIT C142082 per MONDO
• OMIM 617232 per MONDO
• Orphanet 480682 per MONDO
• UMLS C4310660 per MONDO

Affected Organs