|
1
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
2
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
3
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
4
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
5
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
6
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
|
|
76 / 7739
|
|
7
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
8
|
(OMIM)
|
Distal muscle weakness, mild |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Severe disability within 20 years of onset |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Loss of ambulation between third and sixth decade |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
No facial muscle involvement |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
13
|
(OMIM)
|
Fatty infiltration of affected muscles |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Secondary decrease of calpain-3 (CAPN3, 114240) protein expression in muscle |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Normal or increased serum creatine kinase |
|
|
|
|
3 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
17
|
(HPO:0011463)
|
Childhood onset |
|
|
|
|
65 / 7739
|