| Symbol
| MDDGC3
|
| Location
| 1p34.1
|
| Name
|
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 |
| Other name(s)
|
muscular dystrophy, limb-girdle, type 2O |
| Corresponding gene
|
POMGNT1
|
| Other symbol(s)
| LGMD2O
|
| Main clinical features
|
limb-girdle muscular dystrophy with normal cognition
in infancy, proximal limb muscle weakness, difficulty rising from a sitting position and climbing stairs, lordosis and tightening of the Achilles tendon; muscle biopsy showed dystrophic changes with variable staining for glycosylated alpha-dystroglycan |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| neuromuscular |
| Type
| disease
|