Duchenne muscular dystrophy causes: Difference between revisions
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==Causes== | ==Causes== | ||
===Genetic Causes=== | ===Genetic Causes=== | ||
*Duchenne [[muscular dystrophy]] is caused by different [[mutations]] in the [[dystrophin]] gene which is located on the human [[X chromosome]] including: | *Duchenne [[muscular dystrophy]] is caused by different [[mutations]] in the [[dystrophin]] gene which is located on the human [[X chromosome]] including:<ref name="TowbinHejtmancik1993">{{cite journal|last1=Towbin|first1=J A|last2=Hejtmancik|first2=J F|last3=Brink|first3=P|last4=Gelb|first4=B|last5=Zhu|first5=X M|last6=Chamberlain|first6=J S|last7=McCabe|first7=E R|last8=Swift|first8=M|title=X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.|journal=Circulation|volume=87|issue=6|year=1993|pages=1854–1865|issn=0009-7322|doi=10.1161/01.CIR.87.6.1854}}</ref><ref name="LindenbaumClarke1979">{{cite journal|last1=Lindenbaum|first1=R H|last2=Clarke|first2=G|last3=Patel|first3=C|last4=Moncrieff|first4=M|last5=Hughes|first5=J T|title=Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.|journal=Journal of Medical Genetics|volume=16|issue=5|year=1979|pages=389–392|issn=1468-6244|doi=10.1136/jmg.16.5.389}}</ref> | ||
* Single [[gene]] defect | * Single [[gene]] defect | ||
Latest revision as of 13:53, 15 May 2019
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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.