|
1
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
2
|
(HPO:0002913)
|
Myoglobinuria |
|
|
|
|
22 / 7739
|
|
3
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
4
|
(HPO:0003201)
|
Rhabdomyolysis |
|
|
|
|
27 / 7739
|
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
6
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
|
7
|
(HPO:0003710)
|
Exercise-induced muscle cramps |
|
|
|
|
11 / 7739
|
|
8
|
(HPO:0003738)
|
Exercise-induced myalgia |
|
|
|
|
19 / 7739
|
|
9
|
(OMIM)
|
Pigmenturia |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Renal failure may occur |
|
|
|
|
3 / 7739
|
|
11
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
|
12
|
(HPO:0003326)
|
Myalgia |
|
|
|
|
143 / 7739
|
|
13
|
(OMIM)
|
Muscle biopsy shows PAS-positive glycogen-containing vacuoles |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Decreased phosphoglycerate mutase 1 (PGAM2) activity (2 to 6% of normal values) |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|