|
1
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
2
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
3
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
4
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
5
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
6
|
(HPO:0003791)
|
Deposits immunoreactive to beta-amyloid protein |
|
|
|
|
4 / 7739
|
|
7
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|
|
8
|
(OMIM)
|
Hamstring muscle affected |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Tibialis anterior muscle affected |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Quadriceps muscle spared |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
12
|
(OMIM)
|
Tubulofilamentous nuclear or cytoplasmic inclusions on biopsy |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Congophilic amyloid material |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Inflammatory cells absent |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|