|
1
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
2
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
|
|
76 / 7739
|
|
3
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
4
|
(HPO:0002600)
|
Hyporeflexia of lower limbs |
|
|
|
|
13 / 7739
|
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
6
|
(HPO:0003445)
|
EMG: neuropathic changes |
|
|
|
|
21 / 7739
|
|
7
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
8
|
(HPO:0003555)
|
Muscle fiber splitting |
|
|
|
|
11 / 7739
|
|
9
|
(HPO:0003715)
|
Myofibrillar myopathy |
|
|
|
|
9 / 7739
|
|
10
|
(HPO:0003736)
|
Autophagic vacuoles |
|
|
|
|
5 / 7739
|
|
11
|
(HPO:0009063)
|
Progressive distal muscle weakness |
|
|
|
|
4 / 7739
|
|
12
|
(HPO:0009073)
|
Progressive proximal muscle weakness |
|
|
|
|
8 / 7739
|
|
13
|
(OMIM)
|
Patients may have distal or proximal muscle weakness, or both |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
15
|
(OMIM)
|
EMG shows fibrillation potentials |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
EMG may show neurogenic changes |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Muscle biopsy shows myofibrillar changes |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Muscle biopsy shows pleomorphic hyaline, granular, and amorphous deposits that stain with Gomori trichrome |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Congophilic deposits |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Internal nuclei |
|
|
|
|
9 / 7739
|
|
21
|
(OMIM)
|
Isolated necrotic fibers |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Z-disk degeneration |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Immunoreactivity for Z-disk proteins |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
25
|
(OMIM)
|
Serum creatine kinase may be normal |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
27
|
(HPO:0003584)
|
Late onset |
|
|
|
|
10 / 7739
|