|
1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
2
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
3
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
4
|
(HPO:0003687)
|
Centrally nucleated skeletal muscle fibers |
rare [HPO:skoehler]
|
|
|
|
15 / 7739
|
|
5
|
(HPO:0003724)
|
Shoulder girdle muscle atrophy |
|
|
|
|
14 / 7739
|
|
6
|
(HPO:0008981)
|
Calf muscle hypertrophy |
|
|
|
|
28 / 7739
|
|
7
|
(HPO:0009025)
|
Increased connective tissue |
|
|
|
|
11 / 7739
|
|
8
|
(OMIM)
|
Limb muscle weakness, proximal, upper and lower |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Hip girdle muscle atrophy |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
EMG shows myopathic pattern |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Muscle biopsy shows abnormal fiber size and variation |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Centralized nuclei, rare |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
14
|
(OMIM)
|
Subsarcolemmal mitochondrial accumulation |
|
|
|
|
4 / 7739
|
|
15
|
(OMIM)
|
Cytochrome c oxidase-negative fibers |
|
|
|
|
1 / 7739
|
|
16
|
(MedDRA:10051403)
|
Mitochondrial DNA deletion |
|
|
|
|
6 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
18
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
19
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
20
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
21
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|