Duchenne muscular dystrophy causes
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.
Overview
Duchenne muscular dystrophy is caused by a mutation in the dystrophin gene which is located on the human X chromosome.
Causes
Genetic Causes
- Duchenne muscular dystrophy is caused by different mutations in the dystrophin gene which is located on the human X chromosome including:[1][2]
- Single gene defect
- 1/3 New mutation
- 2/3 X-link recessive inheritance
- Xp21.2 region
- Absent dystrophin
References
- ↑ Towbin, J A; Hejtmancik, J F; Brink, P; Gelb, B; Zhu, X M; Chamberlain, J S; McCabe, E R; Swift, M (1993). “X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus”. Circulation. 87 (6): 1854–1865. doi:10.1161/01.CIR.87.6.1854. ISSN 0009-7322.
- ↑ Lindenbaum, R H; Clarke, G; Patel, C; Moncrieff, M; Hughes, J T (1979). “Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm”. Journal of Medical Genetics. 16 (5): 389–392. doi:10.1136/jmg.16.5.389. ISSN 1468-6244.
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