POMGNT2-related limb-girdle muscular dystrophy R24
ORPHA:565899· ICD-10 G71.0
Definition
A rare autosomal recessive limb-girdle muscular dystrophy characterized by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adolescent, Infancy