| Symbol
| LGMD2Z
|
| Location
| 3q13.33
|
| Name
|
muscular dystrophy, limb-girdle,type 2Z |
| Other name(s)
|
Muscular dystrophy, limb-girdle, autosomal recessive 21 |
| Corresponding gene
|
POGLUT1
|
| Other symbol(s)
| LGMDR21
|
| Main clinical features
|
young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy
onset of proximal muscle weakness affecting the lower limbs in the third decade; evolution progressive and eventually involved the upper limbs, resulting in the patients becoming wheelchair-bound and showing scapular winging; oldest patient showed impaired respiratory function in the fourth decade
mildly increased serum creatine kinase;skeletal muscle biopsy showed variable dystrophic and myopathic features |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| neuromuscular |
| Type
| disease
|