Myopathy, distal, with anterior tibial onset
OMIM:606768Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | DYSF |
|---|---|
| Reference transcript | NM_003494.3 |
| DNA Change | c.5594delG |
| A.A. Change | p.Gly1865AlafsX101 |
| Exon/Intron | exon 50 |
| Mutation Type | deletion |
| Reference | Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, B?roud C, Urtizberea A, Eymard B, Leturcq F, L?vy N.Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat. 2005 Aug;26(2):165. |