DMD
Chr XXLRX-linkeddystrophin
Also known as: BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268
This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]
Primary Disease Associations & Inheritance
Clinical highlights
- delandistrogene moxeparvovec (Elevidys)AAV gene therapyApproved · FDA 2023
One-time delivery of a micro-dystrophin transgene.
Delivery: One-time IV infusionEligibility: Per-label age/ambulatory criteria; excludes certain exon 8/9 deletionsNot reading-frame-dependent (see the exon-del/dup card)
- exon-skipping ASOs (eteplirsen·51, casimersen·45, golodirsen/viltolarsen·53)ASOApproved · FDA 2016-2021
Skip a targeted exon to restore the reading frame.
Delivery: Weekly IVEligibility: Only deletions amenable to the specific exon skipMutation-specific — the reading-frame card flags skip-amenability
Therapeutic landscape as of 2026-07. Educational only. Investigational ≠ available; not medical advice or eligibility. Approved entries are precise; investigational program names/phases are conservative and move fast. Curated from FDA/EMA approvals and the clinical-trial literature; verify against current labeling + ClinicalTrials.gov.
ClinicalTrials.govDMD deletion / duplication — reading frame & therapy
Enter a multi-exon del/dup in any form (exon shorthand, HGVS c., or genomic). Predicts Becker vs Duchenne by the reading-frame rule and flags exon-skip therapy amenability.
Deletion of exons 45–50 removes 871 coding nt (frame shifted by 1), so exon 44 now meets exon 51 and downstream sequence is OUT OF FRAME — the reading-frame rule predicts loss of dystrophin (Duchenne-type).
Exon-skip therapy — amenable
- Skipping exon 51 restores frame → eteplirsen (Exondys 51)
Out-of-frame deletion → predicted loss of function. DMD loss of function is an established Duchenne mechanism, so PVS1 applies (frame-disrupting multi-exon deletion of a gene where LOF is the mechanism).
Dystrophin domains affected
- Central rod domain (24 spectrin repeats + 4 hinges) (exons 8–61) — Flexible spacer; in-frame deletions confined to the rod most often give milder Becker.
Micro-dystrophin gene therapy (delandistrogene moxeparvovec, Elevidys) is not reading-frame-dependent; eligibility is set by age/ambulatory criteria and excludes certain exon 8/9 deletions — confirm against current labeling. · Reference NM_004006.3 / LRG_199t1 (Dp427m). The reading-frame rule is ~90% concordant — a prediction, not a diagnosis; confirm phenotype clinically. Exon coordinates: DMD LRG_199 exon table.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DMD · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Prediction of Malignant Transformation of Oral Leukoplakia Using a MAGE-A-based Immunoscore
RECRUITINGA Study to Evaluate the Tolerability, Safety and Efficacy of GNR-097 Gene Therapy in Pediatric Patients With Duchenne Muscular Dystrophy
RECRUITINGA Study of SGT-003 Gene Therapy in Duchenne Muscular Dystrophy (INSPIRE DUCHENNE)
RECRUITINGWound Healing Following Extraction and Ridge Preservation in Smokers and Non-smokers
NOT YET RECRUITINGA Study of SGT-003 Gene Therapy in Ambulant Males With Duchenne Muscular Dystrophy (IMPACT DUCHENNE)
RECRUITINGDuchenne Electronic Health Record Study
RECRUITINGCharacterization of Clinical Skeletal and Cardiac Impairment in Carriers of DMD and BMD
ACTIVE NOT RECRUITINGA Study to Evaluate the Safety and Tolerability of GEN6050X in Duchenne Muscular Dystrophy.
ACTIVE NOT RECRUITINGProdromal Parkinsonian Features in GBA1 Mutation Carriers
RECRUITINGSkeletal Maturation and Endocrine Health in Young Adults
ENROLLING BY INVITATIONA Clinical Study to Evaluate the Safety, Tolerability, and Efficacy of BBM-D101 in the Treatment of Duchenne Muscular Dystrophy.
RECRUITINGOpen-label Study of WVE-N531 in Patients With Duchenne Muscular Dystrophy (FORWARD-53)
RECRUITINGExternal Resources
Links to major genomics databases and tools