Filter your results
- 1
- 1
- 2
- 1
- 1
- 1
- 2
- 2
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 2
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
|
|
sorted by
|
|
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.Human Mutation, 2008, 29 (5), pp.670-8. ⟨10.1002/humu.20696⟩
Journal articles
istex
inserm-00381934v1
|
||
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.Nature Genetics, 2007, 39 (1), pp.28-30. ⟨10.1038/ng1951⟩
Journal articles
inserm-00409618v1
|