|
1
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [IBIS]
|
|
7616539
|
IBIS
|
859 / 7739
|
|
2
|
(HPO:0002151)
|
Increased serum lactate |
Very frequent [IBIS]
|
|
7616539
|
IBIS
|
92 / 7739
|
|
3
|
(HPO:0003128)
|
Lactic acidosis |
Very frequent [IBIS]
|
|
7616539
|
IBIS
|
116 / 7739
|
|
4
|
(HPO:0003198)
|
Myopathy |
Very frequent [IBIS]
|
|
2384736
|
IBIS
|
151 / 7739
|
|
5
|
(HPO:0003546)
|
Exercise intolerance |
Very frequent [IBIS]
|
|
7616539
|
IBIS
|
62 / 7739
|
|
6
|
(HPO:0003737)
|
Mitochondrial myopathy |
Very frequent [IBIS]
|
|
2384736
|
IBIS
|
18 / 7739
|
|
7
|
(HPO:0008306)
|
Abnormal iron deposition in mitochondria |
Very frequent [IBIS]
|
|
21165651
|
IBIS
|
2 / 7739
|
|
8
|
(OMIM)
|
Decreased muscle succinate dehydrogenase |
Very frequent [IBIS]
|
|
21165651
|
IBIS
|
1 / 7739
|
|
9
|
(OMIM)
|
Decreased muscle mitochondrial aconitase |
Very frequent [IBIS]
|
|
21165651
|
IBIS
|
1 / 7739
|
|
10
|
(OMIM)
|
Disproportionate work-related increase in blood lactate and pyruvate |
Very frequent [IBIS]
|
|
7616539
|
IBIS
|
1 / 7739
|
|
11
|
(HPO:0003738)
|
Exercise-induced myalgia |
Very frequent [IBIS]
|
|
7616539
|
IBIS
|
19 / 7739
|
|
12
|
(HPO:0200125)
|
Mitochondrial respiratory chain defects |
Very frequent [IBIS]
|
|
20206689
|
IBIS
|
6 / 7739
|
|
13
|
(HPO:0001924)
|
Sideroblastic anemia |
|
|
18304497
|
IBIS
|
12 / 7739
|
|
14
|
(HPO:0001962)
|
Palpitations |
|
|
7616539
|
IBIS
|
62 / 7739
|
|
15
|
(HPO:0002094)
|
Dyspnea |
|
|
7616539
|
IBIS
|
132 / 7739
|
|
16
|
(HPO:0002913)
|
Myoglobinuria |
|
|
7616539
|
IBIS
|
22 / 7739
|
|
17
|
(HPO:0003201)
|
Rhabdomyolysis |
|
|
18304497
|
IBIS
|
27 / 7739
|
|
18
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
20206689
|
IBIS
|
214 / 7739
|
|
19
|
(HPO:0003394)
|
Muscle cramps |
|
|
21165651
|
IBIS
|
106 / 7739
|
|
20
|
(HPO:0003548)
|
Subsarcolemmal accumulations of abnormally shaped mitochondria |
|
|
20206689
|
IBIS
|
9 / 7739
|
|
21
|
(HPO:0008314)
|
Decreased activity of mitochondrial complex II |
|
|
1918374
|
IBIS
|
7 / 7739
|
|
22
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
8254022
|
IBIS
|
35 / 7739
|
|
23
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
8254022
|
IBIS
|
22 / 7739
|
|
24
|
(HPO:0012240)
|
Increased intramyocellular lipid droplets |
|
|
18296749
|
IBIS
|
7 / 7739
|
|
25
|
(OMIM)
|
Premature exertional muscle weakness |
|
|
7616539
|
IBIS
|
1 / 7739
|
|
26
|
(OMIM)
|
Muscles become hard and tender during exercise |
|
|
20206689
|
IBIS
|
1 / 7739
|
|
27
|
(OMIM)
|
Abnormal mitochondria in skeletal muscle biopsy |
|
|
20206689
|
IBIS
|
1 / 7739
|
|
28
|
(OMIM)
|
Low maximal oxygen uptake on exercise testing |
|
|
18304497
|
IBIS
|
1 / 7739
|
|
29
|
(HPO:0001649)
|
Tachycardia |
|
|
18304497
|
IBIS
|
53 / 7739
|
|
30
|
(HPO:0003542)
|
Increased serum pyruvate |
|
|
7616539
|
IBIS
|
18 / 7739
|
|
31
|
(HPO:0008316)
|
Abnormal mitochondria in muscle tissue |
|
|
20206689
|
IBIS
|
5 / 7739
|
|
32
|
(HPO:0008981)
|
Calf muscle hypertrophy |
|
|
23943793
|
IBIS
|
28 / 7739
|
|
33
|
(IBIS)
|
Elevated plasma fibroblast growth factor 21 |
|
|
23943793
|
IBIS
|
1 / 7739
|