Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Duchenne muscular dystrophy causes
Introduction
Overview
Overview
Duchenne muscular dystrophy is caused by a mutation in the dystrophin gene which is located on the human X chromosome.
Causes
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
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.