|
1
|
(HPO:0000467)
|
Neck muscle weakness |
rare [HPO:skoehler]
|
|
|
|
29 / 7739
|
|
2
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
3
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
4
|
(HPO:0008981)
|
Calf muscle hypertrophy |
|
|
|
|
28 / 7739
|
|
5
|
(OMIM)
|
Palpitations, benign (1 patient) |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Muscle weakness, distal, particularly affecting the hands |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Muscle atrophy, distal, particularly affecting the hands Muscle biopsy shows variation in fiber size |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Internal nuclei |
|
|
|
|
9 / 7739
|
|
9
|
(OMIM)
|
Absence of caveolin-3 staining |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|