|
1
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
2
|
(HPO:0004308)
|
Ventricular arrhythmia |
|
|
|
|
46 / 7739
|
|
3
|
(HPO:0011712)
|
Right bundle branch block |
|
|
|
|
34 / 7739
|
|
4
|
(OMIM)
|
Hypertrophic cardiomyocytes |
|
|
|
|
4 / 7739
|
|
5
|
(OMIM)
|
Central vacuoles containing PAS-positive material |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Cytoplasmic glycogen depletion |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Glycogen depletion in skeletal muscle |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Marked predominance of slow-twitch, oxidative (type 1) muscle fibers |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Mitochondrial proliferation |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|