Locus DMD DMD

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle¹.

Prevalence

4.8 100,000

Believed to be 0 for disease specific to STR expansion. 1/3500-4700 male births (incidence) for overall DMD (one of the most common and severe congenital myopathies)². 4.8/100,000 prevalence³. DMD repeat locus expansion only identified in one Greek family⁴.

Age of Onset

Typical: 6-7 (usual disease is 0-3)⁴.

HPO Terms

–

Association

Mendelian

Locus

hg19 chrX:31302674-31302722

hg38 chrX:31284557-31284605

t2t chrX:30882677-30882743

Details

There is conflicting evidence for the association between this repeat expansion and Duchenne muscular dystrophy. The association was reported in a single family, from which the benign and pathogenic ranges were inferred from affected and unaffected family members⁴. The population frequency of the proposed pathogenic allele is much higher than expected for a highly penetrant early-onset condition.

Mechanism

LoF

Functional defect in dystrophin/dystroglycan⁵.

Detection

Year

2016⁴

Location in Gene

Intron 62

Gene Strand

Alleles

Ref. Motif

TTC

Ranges

Benign (ref.)

–

Benign (gene)

–

Pathogenic (ref.)

TTC

Pathogenic (gene)

AAG

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

–

Interruption (gene)

–

gnomAD

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0010679

Dystrophinopathies

Basil T.,Darras, David K.,Urion, Partha S.,Ghosh

GeneReviews® · 1993-01-01

genereviews:NBK1119

Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.

Nader,Salari, Behnaz,Fatahi, Elahe,Valipour, Mohsen,Kazeminia, Reza,Fatahian, Aliakbar,Kiaei, Shamarina,Shohaimi, Masoud,Mohammadi

Journal of orthopaedic surgery and research · 2022-02-15

pmid:35168641

A dynamic trinucleotide repeat (TNR) expansion in the DMD gene.

Kyriaki,Kekou, Christalena,Sofocleous, George,Papadimas, Dimitris,Petichakis, Maria,Svingou, Roser-Maria,Pons, Pelagia,Vorgia, Artemis,Gika, Sophia,Kitsiou-Tzeli, Emmanuel,Kanavakis

Molecular and cellular probes · 2016-07-12

pmid:27417533

The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis.

Motoi,Kanagawa, Tatsushi,Toda

Journal of human genetics · 2006-09-13

pmid:16969582

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)

Long-read sequencing identifies complex structural variants in DMD patients.

Yi,Xie, Lijun,Bao, Xuenan,Yu, Yan,Liu

BMC medical genomics · 2026-03-29

pmid:41906116

Clinical diagnosis and genetic analysis of a rare case of Duchenne muscular dystrophy and spinal muscular atrophy.

Yingwen,Liu, Minmin,Wang, Keji,Zhang, Lulu,Yan, Changshui,Chen, Haibo,Li

Molecular cytogenetics · 2026-02-14

pmid:41691287

Prenatal diagnosis of Prader-Willi syndrome via maternal UPD15 with placental mosaicism: incidental discovery of fetal DMD carrier status.

Yanchou,Ye, Yiman,Fu, Zhechao,Zhang, Haofeng,Ning, Fangchao,Tao, Xiaonan,Wang, Qun,Fang, Zheng,Chen, Xiulan,Hao

Frontiers in genetics · 2025-10-30

pmid:41244984

Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSC-derived myogenic progenitor cells.

Luca,Caputo, Cedomir,Stamenkovic, Matthew T,Tierney, Alessandra,Cecchini, Monica,Nicolau, Gabriele,Guarnaccia, Jesus R,Barajas, Maria Sofia,Falzarano, Rhonda,Bassel-Duby, Alessandra,Ferlini, Eric N,Olson, Pier Lorenzo,Puri, Alessandra,Sacco

Stem cell reports · 2025-10-30

pmid:41173008

Fibroblast growth factor-inducible 14 regulates satellite cell self-renewal and expansion during skeletal muscle repair.

Meiricris,Tomaz da Silva, Aniket S,Joshi, Ashok,Kumar

JCI insight · 2025-01-28

pmid:39874107

Fibroblast growth factor-inducible 14 regulates satellite cell self-renewal and expansion during skeletal muscle repair.

Meiricris,Tomaz da Silva, Aniket S,Joshi, Ashok,Kumar

bioRxiv : the preprint server for biology · 2025-01-02

pmid:39803454

Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSCs-derived myogenic progenitor cells.

Luca,Caputo, Cedomir,Stamenkovic, Matthew T,Tierney, Maria Sofia,Falzarano, Rhonda,Bassel-Duby, Alessandra,Ferlini, Eric N,Olson, Pier Lorenzo,Puri, Alessandra,Sacco

bioRxiv : the preprint server for biology · 2024-12-10

pmid:39713478

Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.

Liqing,Chen, Xiaoping,Luo, Hongling,Wang, Yu,Tian, Yan,Liu

BMC medical genomics · 2024-09-09

pmid:39251998

Medicaid Expansion and Racial-Ethnic and Sex Disparities in Cardiovascular Diseases Over 6 Years: A Generalized Synthetic Control Approach.

Roch A,Nianogo, Fan,Zhao, Stephen,Li, Akihiro,Nishi, Sanjay,Basu

Epidemiology (Cambridge, Mass.) · 2023-01-30

pmid:38290145