|
1
|
(HPO:0002913)
|
Myoglobinuria |
|
|
|
|
22 / 7739
|
|
2
|
(HPO:0003201)
|
Rhabdomyolysis |
|
|
|
|
27 / 7739
|
|
3
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
4
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
|
5
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
|
6
|
(HPO:0003749)
|
Pelvic girdle muscle weakness |
|
|
|
|
15 / 7739
|
|
7
|
(OMIM)
|
Pigmenturia |
|
|
|
|
2 / 7739
|
|
8
|
(OMIM)
|
Mild pelvic girdle muscle weakness |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Muscle biopsy shows glycogen accumulation |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Increased serum ammonia |
|
|
|
|
5 / 7739
|
|
11
|
(OMIM)
|
Decreased phosphoglucomutase 1 (PGM1) activity (1% of normal values) |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|