DYSF
Gene name: dysferlin, limb girdle muscular dystrophy 2BOMIM ID: 603009
Chromosome location: 2p13.2
Mutations
| Disease/Phenotype | Muscular dystrophy, limb-girdle, type 2B |
|---|---|
| Reference transcript | NM_003494.3 |
| DNA Change | c.2858dupT |
| A.A. Change | p.Phe954ValfsX2 |
| Exon/Intron | exon 27 |
| Mutation Type | duplication |
| 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. |
| Disease/Phenotype | Myopathy, distal, with anterior tibial onset |
|---|---|
| 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. |