|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
rare [HPO:skoehler]
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
3
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
|
|
|
|
23 / 7739
|
|
4
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
5
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
6
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
|
8
|
(HPO:0003548)
|
Subsarcolemmal accumulations of abnormally shaped mitochondria |
|
|
|
|
9 / 7739
|
|
9
|
(HPO:0003688)
|
Decreased activity of cytochrome C oxidase in muscle tissue |
|
|
|
|
20 / 7739
|
|
10
|
(HPO:0003689)
|
Multiple mitochondrial DNA deletions |
|
|
|
|
12 / 7739
|
|
11
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
12
|
(OMIM)
|
Sensorineural hearing loss has been reported |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
14
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
15
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
16
|
(OMIM)
|
Muscle biopsy shows ragged red fibers |
|
|
|
|
4 / 7739
|
|
17
|
(OMIM)
|
Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Muscle biopsy shows decreased activity of cytochrome c oxidase |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Serum lactate is usually normal |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
22
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
23
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|