|
1
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
2
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
3
|
(HPO:0003738)
|
Exercise-induced myalgia |
|
|
|
|
19 / 7739
|
|
4
|
(OMIM)
|
Normal extraocular muscle function |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
No facial weakness |
|
|
|
|
3 / 7739
|
|
6
|
(OMIM)
|
Mild weakness of neck flexion |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Moderate symmetrical pectoral girdle wasting |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Malate-aspartate shuttle system defect |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0012086)
|
Abnormal urinary color |
|
|
|
|
19 / 7739
|
|
10
|
(HPO:0012087)
|
Abnormal mitochondrial shape |
|
|
|
|
8 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|