1
|
(HPO:0030051)
|
Tip-toe gait |
Frequent [IBIS]
|
57% (n=16)
|
22012042
|
IBIS
|
10 / 7739
|
2
|
(HPO:0005162)
|
Left ventricular failure |
occasional [IBIS]
|
|
24464767
|
IBIS
|
18 / 7739
|
3
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
24464767
|
IBIS
|
76 / 7739
|
4
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
24464767
|
IBIS
|
192 / 7739
|
5
|
(HPO:0002317)
|
Unsteady gait |
|
|
24742800
|
IBIS
|
45 / 7739
|
6
|
(HPO:0002650)
|
Scoliosis |
|
|
18996010
|
IBIS
|
705 / 7739
|
7
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
25050186
|
IBIS
|
214 / 7739
|
8
|
(HPO:0003325)
|
Limb-girdle muscle weakness |
|
|
25050186
|
IBIS
|
22 / 7739
|
9
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
24742800
|
IBIS
|
38 / 7739
|
10
|
(HPO:0003797)
|
Limb-girdle muscle atrophy |
|
|
25050186
|
IBIS
|
8 / 7739
|
11
|
(HPO:0006785)
|
Limb-girdle muscular dystrophy |
|
|
25050186
|
IBIS
|
14 / 7739
|
12
|
(OMIM)
|
Necrosis and degeneration seen on muscle biopsy |
|
|
24742800
|
IBIS
|
1 / 7739
|
13
|
(OMIM)
|
Decreased immunostaining for alpha-sarcoglycan |
|
|
25050186
|
IBIS
|
1 / 7739
|
14
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
25050186
|
IBIS
|
105 / 7739
|
15
|
(HPO:0030101)
|
Absent muscle fiber alpha sarcoglycan |
|
|
25050186
|
IBIS
|
1 / 7739
|
16
|
(OMIM)
|
Absence of gamma-sarcoglycan protein |
|
|
24742800
|
IBIS
|
2 / 7739
|
17
|
(HPO:0003707)
|
Calf muscle pseudohypertrophy |
|
|
24742800
|
IBIS
|
8 / 7739
|
18
|
(HPO:0003691)
|
Scapular winging |
|
|
24742800
|
IBIS
|
51 / 7739
|
19
|
(HPO:0003307)
|
Hyperlordosis |
|
|
24742800
|
IBIS
|
122 / 7739
|
20
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
24742800
|
IBIS
|
27 / 7739
|
21
|
(HPO:0030099)
|
Reduced muscle fiber alpha dystroglycan |
|
|
10842281
|
IBIS
|
2 / 7739
|
22
|
(HPO:0002913)
|
Myoglobinuria |
|
|
23989969
|
IBIS
|
22 / 7739
|
23
|
(HPO:0003201)
|
Rhabdomyolysis |
|
|
26453141
|
IBIS
|
27 / 7739
|
24
|
(HPO:0003738)
|
Exercise-induced myalgia |
|
|
26453141
|
IBIS
|
19 / 7739
|
25
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
15298081
|
IBIS
|
410 / 7739
|