|
1
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
|
2
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
4
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
6
|
(HPO:0003306)
|
Spinal rigidity |
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0003388)
|
Easy fatigability |
|
|
|
|
34 / 7739
|
|
8
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
9
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
10
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
|
|
39 / 7739
|
|
11
|
(HPO:0003715)
|
Myofibrillar myopathy |
|
|
|
|
9 / 7739
|
|
12
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
13
|
(HPO:0006597)
|
Diaphragmatic paralysis |
|
|
|
|
16 / 7739
|
|
14
|
(HPO:0007108)
|
Demyelinating peripheral neuropathy |
|
|
|
|
8 / 7739
|
|
15
|
(HPO:0001723)
|
Restrictive cardiomyopathy |
|
|
|
|
22 / 7739
|
|
16
|
(OMIM)
|
Reduced forced vital capacity |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Stiff spine |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Contractures of the knees and ankles |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Ankle valgus deformity |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Muscle weakness, severe, diffuse |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Skeletal muscle biopsy shows dystrophic changes |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
Necrotic fibers |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Internal nuclei |
|
|
|
|
9 / 7739
|
|
24
|
(OMIM)
|
Variation in fiber size |
|
|
|
|
8 / 7739
|
|
25
|
(OMIM)
|
Apoptotic nuclei |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Sarcoplasmic accumulation of electron-dense granulofilamentous material |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
[DEL]Myopathic changes seen on EMG |
|
|
|
|
3 / 7739
|
|
28
|
(OMIM)
|
Z-disk streaming |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Z-disk degeneration |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Toe-walking in early childhood |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Clumsy gait |
|
|
|
|
3 / 7739
|
|
32
|
(OMIM)
|
Axonal and demyelinating peripheral neuropathy (in some patients) |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Markedly increased serum creatine kinase |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
35
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
36
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
37
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
38
|
(HPO:0003447)
|
Axonal loss |
|
|
|
|
11 / 7739
|
|
39
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|
|
40
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|