International Journal of Infertility & Fetal Medicine

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VOLUME 9 , ISSUE 1 ( January-August [1-2 Combined], 2018 ) > List of Articles

CASE REPORT

Duchenne Muscular Dystrophy: Carrier Discretion to Prenatal Care—Report of a Case

Sonal Agarwal, Arya Rajendran, Sushma Madhuprakash

Keywords : Duchenne muscular dystrophy, Prenatal diagnosis, Amniocentesis

Citation Information : Agarwal S, Rajendran A, Madhuprakash S. Duchenne Muscular Dystrophy: Carrier Discretion to Prenatal Care—Report of a Case. Int J Infertil Fetal Med 2018; 9 (1):25-26.

DOI: 10.5005/jp-journals-10016-1168

License: CC BY-NC 4.0

Published Online: 01-12-2018

Copyright Statement:  Copyright © 2018; The Author(s).


Abstract

Duchenne muscular dystrophy (DMD) is the most common hereditary cause of neuromuscular weakness and the most common of X-linked recessive diseases. It is caused by a mutation in the DMD gene located on chromosome X, 21.2 locus that encodes the dystrophin protein. Nucleic acid analytical techniques have advanced so much that the identification of potential carriers is possible by assessment of the causative mutations. The following case report describes the identification of a denovo dystrophin gene mutation in a carrier female and the subsequent antenatal workup of her present pregnancy


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