DMD

Chr XXLRX-linked

dystrophin

Also known as: BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268

NCBI Gene: 1756ENSG00000198947UniProt: P11532

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

Duchenne muscular dystrophyMIM #310200
XLR
Becker muscular dystrophyMIM #300376
XLR
Cardiomyopathy, dilated, 3BMIM #302045
X-linked
Duchenne muscular dystrophyMIM #310200
XLR
501
ClinVar variants
90
Pathogenic / LP
1.00
pLI score· haploinsufficient
12
Active trials
Clinical Summary— DMD
🧬
Gene-Disease Validity (ClinGen)
progressive muscular dystrophy · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
90 Pathogenic / Likely Pathogenic· 317 VUS of 501 total submissions
💊
Clinical Trials
12 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.15LOEUF
pLI 1.000
Z-score 10.69
OE 0.10 (0.07–0.15)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-2.43Z-score
OE missense 1.19 (1.14–1.24)
1568 obs / 1319.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.10 (0.07–0.15)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.19 (1.14–1.24)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.20
0≤1.21.6
LoF obs/exp: 17 / 165.4Missense obs/exp: 1568 / 1319.4Syn Z: -3.44

ClinVar Variant Classifications

501 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic73
Likely Pathogenic17
VUS317
Likely Benign93
Benign1
73
Pathogenic
17
Likely Pathogenic
317
VUS
93
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
22
1
50
0
73
Likely Pathogenic
4
2
10
1
17
VUS
1
248
51
17
317
Likely Benign
0
5
52
36
93
Benign
0
0
1
0
1
Total2725616454501

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View 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.

Gene2Phenotype Curations

DMD-related Duchenne muscular dystrophy

definitive
Monoallelic X HemizygousLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

2 OMIM entries

OMIM

Duchenne muscular dystrophy

MIM #310200

Molecular basis of disorder known

X-linked recessive
DYSTROPHIN; DMD
MIM #300377 · *

Becker muscular dystrophy

MIM #300376

Molecular basis of disorder known

X-linked recessive

Cardiomyopathy, dilated, 3B

MIM #302045

Molecular basis of disorder known

X-linked

Duchenne muscular dystrophy

MIM #310200

Molecular basis of disorder known

X-linked recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.·Genet Med
2020Cohort
Duchenne Muscular Dystrophy: From Diagnosis to Therapy.
Falzarano MS et al.·Molecules
2015Review
Gene Therapy for Duchenne Muscular Dystrophy.
Elangkovan N et al.·J Neuromuscul Dis
2021Review
Exon-Skipping in Duchenne Muscular Dystrophy.
Takeda S et al.·J Neuromuscul Dis
2021Review
An update on Becker muscular dystrophy.
Straub V et al.·Curr Opin Neurol
2023Review
The DMD gene and therapeutic approaches to restore dystrophin.
Fortunato F et al.·Neuromuscul Disord
2021Review
Givinostat: First Approval.
Lamb YN·Drugs
2024Review
Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.
Ling C et al.·Hum Mutat
2020
Dystrophin: the protein product of the Duchenne muscular dystrophy locus.
Hoffman EP et al.·Cell
1987
Rapid and scalable personalized ASO screening in patient-derived organoids.
Means JC et al.·Nature
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Cerebral Palsy (CP)

Spastic Myopathy in Adults With Cerebral Palsy

RECRUITING
NCT07293988Phase NANeurolocoStarted 2022-05-19
Guided Self-rehabilitation ContractConventional therapy group
Duchenne Muscular Dystrophy (DMD)Viscoelastic Property

Duchenne Muscular Dystrophy and the Viscoelastic Properties of Upper Limb Muscles

ENROLLING BY INVITATION
NCT07435116Sanko UniversityStarted 2025-11-01
Duchenne Muscular Dystrophy (DMD)Becker's Muscular Dystrophy (BMD)

Urinary Titin Biomarker in DMD

RECRUITING
NCT07332013Phase NAChildren's Hospital of PhiladelphiaStarted 2026-03-01
Descending stair walk
Rare Genetic Muscle DiseasesMuscular Dystrophy, DuchenneMuscular Dystrophy, Becker

Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases

RECRUITING
NCT06833489Phase NAAssistance Publique Hopitaux De MarseilleStarted 2025-03-01
ARN extraction from muscle biopsies
Duchenne / Becker Muscular Dystrophy

Transition to Adulthood in People With Muscular Dystrophy

NOT YET RECRUITING
NCT07101185Phase NAIRCCS Eugenio MedeaStarted 2025-09
VIRTUAL REALITY
Duchenne / Becker Muscular DystrophyDystrophia Myotonica 1Congenital Myopathies

Evaluation of the Role of miR-1 in the Pathogenesis and as a Biomarker in Muscular Dystrophies and Congenital Myopathies

RECRUITING
NCT07415837Phase NAUniversity Hospital, Clermont-FerrandStarted 2026-02-11
dosage of blood biomarker miR1
Duchenne Muscular Dystrophy

A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) in Non-Ambulatory and Ambulatory Participants With Duchenne Muscular Dystrophy (DMD)

ACTIVE NOT RECRUITING
NCT05881408Phase PHASE3Sarepta Therapeutics, Inc.Started 2023-05-31
delandistrogene moxeparvovecplacebo
Inherited Non-Duchenne Myopathies

Clinical and Functional Assessment of Patients With Inherited Non-Duchenne Myopathies in Sohag University Hospital

RECRUITING
NCT06574919Sohag UniversityStarted 2024-08-01
Duchenne Muscular Dystrophy

Open-label Study of WVE-N531 in Patients With Duchenne Muscular Dystrophy (FORWARD-53)

RECRUITING
NCT04906460Phase PHASE1, PHASE2Wave Life Sciences Ltd.Started 2021-09-28
WVE-N531
Duchene Muscular Dystrophy

A Study Evaluating the Real-World Experience of Givinostat in Patients With Duchenne Muscular Dystrophy

RECRUITING
NCT07127978ITF Therapeutics LLCStarted 2025-10-23
Smoking, CigaretteAlveolar Bone GraftingWound Healing

Wound Healing Following Extraction and Ridge Preservation in Smokers and Non-smokers

NOT YET RECRUITING
NCT07372183Marquette UniversityStarted 2026-01-25
observational study
Oral LeukoplakiaOral Leukoplakia of TongueOral Leukoplakia of Gingiva

Prediction of Malignant Transformation of Oral Leukoplakia Using a MAGE-A-based Immunoscore

RECRUITING
NCT03975322University of Erlangen-Nürnberg Medical SchoolStarted 2019-12-01

External Resources

Links to major genomics databases and tools