|
1
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
2
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
3
|
(HPO:0003325)
|
Limb-girdle muscle weakness |
|
|
|
|
22 / 7739
|
|
4
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
5
|
(HPO:0003791)
|
Deposits immunoreactive to beta-amyloid protein |
|
|
|
|
4 / 7739
|
|
6
|
(HPO:0003797)
|
Limb-girdle muscle atrophy |
|
|
|
|
8 / 7739
|
|
7
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|
|
8
|
(OMIM)
|
Ascending muscle weakness (beginning with feet and legs) |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Quadriceps muscle spared |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
May have proximal muscle weakness later in the disease |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
12
|
(OMIM)
|
Tubulofilamentous nuclear or cytoplasmic inclusions (15-18 nm) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Inflammatory cells absent |
|
|
|
|
2 / 7739
|