Gene Information
dystrophin [Source:HGNC Symbol;Acc:HGNC:2928]
DMD variants are associated with 5 diseases including Becker muscular dystrophy and symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers and 3 others, with 48 documented clinical phenotypes.
The DMD gene is associated with 5 medical conditions, including:
Research has identified 48 phenotypic features associated with DMD variants:
Muscular dystrophy
HP:0003560
Juvenile onset
HP:0003621
Abnormal EKG
HP:0003115
Dilated cardiomyopathy
HP:0001644
Difficulty climbing stairs
HP:0003551
Tip-toe gait
HP:0030051
Calf muscle pseudohypertrophy
HP:0003707
Calf muscle pseudohypertrophy
HP:0003707
Adult onset
HP:0003581
Childhood onset
HP:0011463
Cardiomyopathy
HP:0001638
Arrhythmia
HP:0011675
Obstructive sleep apnea
HP:0002870
Cardiomyopathy
HP:0001638
Hyporeflexia
HP:0001265
ClinVar contains 10 variants associated with DMD. Below are some notable variants:
NM_004006.3(DMD):c.4651C>T (p.His1551Tyr)
Uncertain significanceVCV004527523
Review: criteria provided, single submitter
NM_004006.3(DMD):c.9741G>T (p.Gln3247His)
Uncertain significanceVCV004527065
Review: criteria provided, single submitter
NC_000023.10:g.(33038318_33229398)_(33229667_?)del
PathogenicVCV004526298
Review: criteria provided, single submitter
NC_000023.10:g.(32398798_32404426)_(32408299_32429868)del
Likely pathogenicVCV004526134
Review: criteria provided, single submitter
NC_000023.10:g.(31986632_32235032)_(32490427_32503035)del
PathogenicVCV004526097
Review: criteria provided, single submitter
There are 4,721 publications about DMD indexed in PubMed. Below are some recent papers:
On Chinese space station: pioneering space experiments unraveling the hydrodynamic instability of annular thermocapillary convection.
Wu D, Tang W, Wang J
PMID: 41258509
•
2025 Nov 19
•
Sci Rep
Effect of chemical surface treatments on the repair of composite restorations.
Rizzante F, Hales H, Silva I
PMID: 41255391
•
2025 Oct
•
J Clin Exp Dent
Exosomal microRNA in diabetic myocardial disorder: Mechanisms, diagnosis, and treatment.
Yu Y, Yang X, Yin Y
PMID: 41252786
•
2025 Nov 17
•
Biomed Pharmacother
Genome- and transcriptome-wide association meta-analysis reveals new insights into genes affecting coronary and peripheral artery disease.
Rode M, Rosolowski M, Horn K
PMID: 41252360
•
2025
•
PLoS One
Paediatric medicines development for Duchenne muscular dystrophy: An EU regulatory perspective.
Benchetrit S, Chu C, Athanasiou D
PMID: 41252306
•
2025 Nov 18
•
J Neuromuscul Dis
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Trusted Data Sources
Last updated: 11/20/2025