1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
2
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
3
|
(HPO:0001430)
|
Abnormality of the calf musculature |
|
|
|
|
1 / 7739
|
4
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
5
|
(HPO:0007149)
|
Distal upper limb amyotrophy |
|
|
|
|
4 / 7739
|
6
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
7
|
(HPO:0008944)
|
Distal lower limb amyotrophy |
|
|
|
|
12 / 7739
|
8
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
|
|
76 / 7739
|
9
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
10
|
(OMIM)
|
Distal muscle weakness, upper and lower limbs |
|
|
|
|
4 / 7739
|
11
|
(OMIM)
|
Distal lower and upper limb muscle atrophy |
|
|
|
|
3 / 7739
|
12
|
(OMIM)
|
Calf muscle weakness |
|
|
|
|
2 / 7739
|
13
|
(OMIM)
|
Sparing of the anterior tibial compartment |
|
|
|
|
1 / 7739
|
14
|
(OMIM)
|
Decreased hand grip strength |
|
|
|
|
1 / 7739
|
15
|
(OMIM)
|
Forearm muscle weakness |
|
|
|
|
1 / 7739
|
16
|
(OMIM)
|
Weakness of ankle plantar flexion |
|
|
|
|
1 / 7739
|
17
|
(OMIM)
|
Weakness of hip flexors |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Decreased ability to run |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Inability to jump or squat |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Progression to proximal muscle weakness |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Imaging shows muscle atrophy and fatty replacement |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Muscle biopsy shows variation in fiber size |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Type 1 fiber predominance |
|
|
|
|
9 / 7739
|
24
|
(OMIM)
|
No rods |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
No necrosis |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
No dystrophic changes |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Hyporeflexia in the lower limbs |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Normal or mildly increased serum creatine kinase |
|
|
|
|
6 / 7739
|
29
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
30
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|