|
1
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
2
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
3
|
(HPO:0012548)
|
Fatty replacement of skeletal muscle |
|
|
|
|
8 / 7739
|
|
4
|
(OMIM)
|
Neck and proximal limb muscle myopathy |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Interfibrillar and subsarcolemmal vacuoles |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Histochemically normal type-II muscle fibers |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Excessive neutral fat and free fatty acids in type-I fibers |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Degenerate mitochondrial on EM |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|