POGLUT1-related limb-girdle muscular dystrophy R21

Go to external page http://www.orpha.net/ORDO/Orphanet_480682


A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.

Synonyms: POGLUT1-related LGMD R21 LGMD2Z Limb-girdle muscular dystrophy type 2Z LGMD type 2Z Autosomal recessive limb-girdle muscular dystrophy type 2Z

This is just here as a test because I lose it

Term information

database cross reference
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480682

hasDbXref

ICD-10:G71.0

OMIM:617232

has age of onset

http://www.orpha.net/ORDO/Orphanet_409944

has inheritance

http://www.orpha.net/ORDO/Orphanet_409930

has point prevalence range

http://www.orpha.net/ORDO/Orphanet_409979

notation

ORPHA:480682

part of

http://www.orpha.net/ORDO/Orphanet_102015

http://www.orpha.net/ORDO/Orphanet_309450

present in

http://www.orpha.net/ORDO/Orphanet_409991