Identity
HGNC
LOCATION
Xp21.2
LOCUSID
ALIAS
BMD,CMD3B,DXS142,DXS164,DXS206,DXS230,DXS239,DXS268,DXS269,DXS270,DXS272,MRX85
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1756
MIM: 300377
HGNC: 2928
Ensembl: ENSG00000198947
Variants:
dbSNP: 1756
ClinVar: 1756
TCGA: ENSG00000198947
COSMIC: DMD
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166163432 | eteplirsen | Chemical | LabelAnnotation | associated | |||
| PA166190721 | Golodirsen | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37929330 | 2024 | Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes. | 1 |
| 37968431 | 2024 | Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions. | 0 |
| 38264815 | 2024 | [Analysis of DMD gene variants in a single center]. | 0 |
| 38438561 | 2024 | Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy. | 0 |
| 38484964 | 2024 | The unconditioned fear response in vertebrates deficient in dystrophin. | 0 |
| 38486238 | 2024 | Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies. | 0 |
| 38504154 | 2024 | Comprehensive analysis of genomic complexity in the 5' end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing. | 0 |
| 38512499 | 2024 | The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation. | 0 |
| 38517116 | 2024 | Quantitative ultrasonography reveals skeletal muscle abnormalities in carriers of DMD pathogenic variants. | 0 |
| 38621993 | 2024 | Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism. | 1 |
| 38653179 | 2024 | Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene. | 0 |
| 37929330 | 2024 | Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes. | 1 |
| 37968431 | 2024 | Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions. | 0 |
| 38264815 | 2024 | [Analysis of DMD gene variants in a single center]. | 0 |
| 38438561 | 2024 | Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy. | 0 |
Citation
Dessen P
DMD (dystrophin)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46127/dmd
