|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
3
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
4
|
(HPO:0003325)
|
Limb-girdle muscle weakness |
|
|
|
|
22 / 7739
|
|
5
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
6
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
7
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
8
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
9
|
(HPO:0003791)
|
Deposits immunoreactive to beta-amyloid protein |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0003797)
|
Limb-girdle muscle atrophy |
|
|
|
|
8 / 7739
|
|
11
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|