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.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0017741
disorder of protein O-glycosylation
is_a
LGMD2Z
exact
POGLUT1 autosomal recessive limb-girdle muscular dystrophy
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1
exact
autosomal recessive limb-girdle muscular dystrophy type 2Z
exact
limb-girdle muscular dystrophy type 2Z
exact
muscular dystrophy, limb-girdle, autosomal recessive 21
exact
muscular dystrophy, limb-girdle, type 2Z
exact