|
1
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
2
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
3
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
4
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
|
|
27 / 7739
|
|
5
|
(HPO:0002600)
|
Hyporeflexia of lower limbs |
|
|
|
|
13 / 7739
|
|
6
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
7
|
(HPO:0003326)
|
Myalgia |
|
|
|
|
143 / 7739
|
|
8
|
(HPO:0003552)
|
Muscle stiffness |
|
|
|
|
23 / 7739
|
|
9
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
10
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
11
|
(HPO:0003715)
|
Myofibrillar myopathy |
|
|
|
|
9 / 7739
|
|
12
|
(HPO:0009063)
|
Progressive distal muscle weakness |
|
|
|
|
4 / 7739
|
|
13
|
(HPO:0100303)
|
Muscle fiber cytoplasmatic inclusion bodies |
|
|
|
|
3 / 7739
|
|
14
|
(OMIM)
|
Proximal muscle involvement may occur |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
Muscle stiffness or aching |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
EMG shows myopathic and neurogenic changes |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Muscle biopsy shows myofibrillar myopathy |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Abnormal muscle fibers with amorphous, granular, or hyaline deposits |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Congophilic staining |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Increased staining for myotilin, dystrophin, desmin |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Electron microscopy shows dense material emanating from the Z-disk |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Phagocytic vacuoles with degraded membranous material |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
25
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
26
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|