|
1
|
(HPO:0000158)
|
Macroglossia |
|
|
|
|
119 / 7739
|
|
2
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
3
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
4
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
5
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
6
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
|
|
51 / 7739
|
|
7
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
8
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
9
|
(HPO:0002058)
|
Myopathic facies |
|
|
|
|
26 / 7739
|
|
10
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
11
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
12
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
13
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
14
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
15
|
(HPO:0003234)
|
Decreased plasma carnitine |
|
|
|
|
9 / 7739
|
|
16
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
17
|
(HPO:0003542)
|
Increased serum pyruvate |
|
|
|
|
18 / 7739
|
|
18
|
(HPO:0003688)
|
Decreased activity of cytochrome C oxidase in muscle tissue |
|
|
|
|
20 / 7739
|
|
19
|
(HPO:0009051)
|
Increased muscle glycogen content |
|
|
|
|
8 / 7739
|
|
20
|
(HPO:0009058)
|
Increased muscle lipid content |
|
|
|
|
6 / 7739
|
|
21
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
22
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
|
|
|
|
42 / 7739
|
|
23
|
(HPO:0003720)
|
Generalized muscle hypertrophy |
|
|
|
|
8 / 7739
|
|
24
|
(HPO:0100293)
|
Muscle fiber hypertrophy |
|
|
|
|
6 / 7739
|
|
25
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
26
|
(OMIM)
|
Macroglossia, transient |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Neck weakness |
|
|
|
|
3 / 7739
|
|
28
|
(OMIM)
|
Hepatomegaly, transient |
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
30
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
31
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
32
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
33
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
34
|
(HPO:0003473)
|
Fatigable weakness |
|
|
|
|
39 / 7739
|
|
35
|
(OMIM)
|
Muscle biopsy in acute stage shows increased numbers of abnormal mitochondria |
|
|
|
|
1 / 7739
|
|
36
|
(MedDRA:10024592)
|
Lipids increased |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Increased glycogen |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Decreased cytochrome c oxidase (COX) activity and protein |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Increased fibrosis |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Large hypertrophied fibers |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Variation in fiber size |
|
|
|
|
8 / 7739
|
|
42
|
(OMIM)
|
Dystrophic features |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Increased serum creatine kinase in acute stage |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Increased serum lactate in acute stage |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Increased serum pyruvate in acute stage |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Decreased serum carnitine in acute stage |
|
|
|
|
1 / 7739
|