|
1
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
2
|
(HPO:0000098)
|
Tall stature |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
3
|
(HPO:0003198)
|
Myopathy |
Very frequent [Orphanet]
|
|
|
|
151 / 7739
|
|
4
|
(HPO:0000298)
|
Mask-like facies |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
6
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
7
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
8
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
9
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
10
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
11
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
12
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
|
|
21 / 7739
|
|
13
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
|
|
|
|
24 / 7739
|
|
14
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
15
|
(HPO:0003687)
|
Centrally nucleated skeletal muscle fibers |
|
|
|
|
15 / 7739
|
|
16
|
(HPO:0003707)
|
Calf muscle pseudohypertrophy |
|
|
|
|
8 / 7739
|
|
17
|
(HPO:0003722)
|
Neck flexor weakness |
|
|
|
|
13 / 7739
|
|
18
|
(HPO:0003724)
|
Shoulder girdle muscle atrophy |
|
|
|
|
14 / 7739
|
|
19
|
(HPO:0003731)
|
Quadriceps muscle weakness |
|
|
|
|
2 / 7739
|
|
20
|
(HPO:0003738)
|
Exercise-induced myalgia |
|
|
|
|
19 / 7739
|
|
21
|
(HPO:0003749)
|
Pelvic girdle muscle weakness |
|
|
|
|
15 / 7739
|
|
22
|
(HPO:0008988)
|
Pelvic girdle muscle atrophy |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
24
|
(OMIM)
|
'Flat smile' |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
|
26
|
(OMIM)
|
Exercise-induced weakness |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Pectoralis muscles may be less involved, leading to inward shrugging posture |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
29
|
(OMIM)
|
Increased echo intensity in affected muscles |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Atrophic fibers |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Muscle biopsy shows small, membrane-bound vacuoles predominantly in type 2 fibers |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Vacuole membranes show ATPase reactivity consistent with origin from the sarcoplasmic reticulum |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
35
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
36
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|