DMD
Gene name: dystrophinOMIM ID: 300377
Chromosome location: Xp21.2-p21
Mutations
| Disease/Phenotype | Muscular dystrophy, becker type |
|---|---|
| DNA Change | Exons deletion |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | deletion |
| Reference | Sbiti A, El Kerch F, Sefiani A.Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients. J Biomed Biotechnol. 2002;2(3):158-160. |
| Disease/Phenotype | Muscular dystrophy, duchenne type |
|---|---|
| DNA Change | Exons deletion |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | deletion |
| Reference | Sbiti A, El Kerch F, Sefiani A.Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients. J Biomed Biotechnol. 2002;2(3):158-160. |
Variant not named according to HGVS recommendations