1
|
(HPO:0000662)
|
Nyctalopia |
rare [HPO:skoehler]
|
|
|
|
92 / 7739
|
2
|
(HPO:0002522)
|
Areflexia of lower limbs |
|
|
|
|
16 / 7739
|
3
|
(HPO:0002600)
|
Hyporeflexia of lower limbs |
|
|
|
|
13 / 7739
|
4
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
6
|
(HPO:0003388)
|
Easy fatigability |
|
|
|
|
34 / 7739
|
7
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
8
|
(HPO:0003552)
|
Muscle stiffness |
|
|
|
|
23 / 7739
|
9
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
|
|
|
|
24 / 7739
|
10
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
11
|
(HPO:0003738)
|
Exercise-induced myalgia |
|
|
|
|
19 / 7739
|
12
|
(HPO:0009005)
|
Weakness of the intrinsic hand muscles |
|
|
|
|
3 / 7739
|
13
|
(HPO:0000615)
|
Abnormality of the pupil |
rare [HPO:skoehler]
|
|
|
|
39 / 7739
|
14
|
(OMIM)
|
Muscle cramps at rest |
|
|
|
|
1 / 7739
|
15
|
(OMIM)
|
Muscle biopsy shows increased fiber size variation |
|
|
|
|
1 / 7739
|
16
|
(OMIM)
|
Muscle biopsy shows internal nuclei |
|
|
|
|
1 / 7739
|
17
|
(OMIM)
|
Muscle biopsy shows fatty infiltration |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Tubular aggregates, mainly in type 2 fibers |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Tubular aggregates are subsarcolemmal or intermyofibrillar |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Tubular aggregates stain for NADH-tetrazolium reductase |
|
|
|
|
1 / 7739
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
22
|
(HPO:0000544)
|
External ophthalmoplegia |
rare [HPO:skoehler]
|
|
|
|
40 / 7739
|
23
|
(HPO:0001371)
|
Flexion contracture |
rare [HPO:skoehler]
|
|
|
|
220 / 7739
|
24
|
(HPO:0002093)
|
Respiratory insufficiency |
rare [HPO:skoehler]
|
|
|
|
410 / 7739
|
25
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
26
|
(HPO:0003554)
|
Type 2 muscle fiber atrophy |
|
|
|
|
14 / 7739
|
27
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
28
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
29
|
(HPO:0007126)
|
Proximal amyotrophy |
|
|
|
|
29 / 7739
|
30
|
(HPO:0009046)
|
Difficulty running |
|
|
|
|
17 / 7739
|