1
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
2
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
3
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
4
|
(OMIM)
|
Biopsy shows myopathy without vacuoles |
|
|
|
|
1 / 7739
|
5
|
(OMIM)
|
Anterior tibial muscles first involved |
|
|
|
|
1 / 7739
|
6
|
(OMIM)
|
Involves upper and lower proximal muscles |
|
|
|
|
1 / 7739
|
7
|
(OMIM)
|
Cranial muscles spared |
|
|
|
|
1 / 7739
|
8
|
(OMIM)
|
Serum creatine kinase 20-70 times normal |
|
|
|
|
1 / 7739
|
9
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
10
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|