" /> Limb-girdle muscular dystrophy 2O, POMGNT1 gene mutation - CISMeF





Preferred Label : Limb-girdle muscular dystrophy 2O, POMGNT1 gene mutation;

ICD-11 definition : Limb-girdle muscular dystrophy-dystroglycanopathy (type C3; MDDGC3), also known as LGMD2O, is caused by homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. It is a rare form of autosomal recessive limb-girdle muscular dystrophy with normal cognition, and it is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan collectively known as dystroglycanopathies.;

ICD-11 synonym : limb-girdle muscular dystrophy 2O; LGMD2O - [limb-girdle muscular dystrophy 2O]; MDDGC3; Limb-girdle muscular dystrophy-dystroglycanopathy (type C3); Limb-girdle muscular dystrophy-dystroglycanopathy;

ICD-11 acronym : LGMD2O;

Details


Keyword's position in hierarchy(ies) : arborescence

You can consult :

Limb-girdle muscular dystrophy-dystroglycanopathy (type C3; MDDGC3), also known as LGMD2O, is caused by homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. It is a rare form of autosomal recessive limb-girdle muscular dystrophy with normal cognition, and it is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan collectively known as dystroglycanopathies.

Nous contacter.
06/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.