|
1
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
|
2
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
3
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|
|
4
|
(OMIM)
|
Weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle) |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Atrophy of the muscles in the anterior compartment of the lower leg |
|
|
|
|
1 / 7739
|
|
6
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
7
|
(OMIM)
|
Reduced ankle dorsiflexion |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Replacement of affected muscle tissue with fatty tissue |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Biopsy shows rimmed vacuoles, central nuclei, and variation in fiber size |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
EMG shows myopathy |
|
|
|
|
3 / 7739
|
|
11
|
(OMIM)
|
Cardiomyopathy is not a feature |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
13
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
14
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
15
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
16
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|