Mallikarjuna Rao, G.N. and Hussain, T. and Geetha Devi, N. and Jain, S. and Chandak, G.R. and Ananda Raj, M.P. (2003) Dystrophin gene deletions in South Indian Duchenne muscular dystrophy patients. Indian Journal of Medical Sciences, 57 (1). pp. 1-6. ISSN 0019-5359

Text Ind J Med Sci 57 p1.docx Download (28Kb)

Abstract

66 unrelated patients from Southern India with Duchenne Muscular Dystrophy (DMD) were studied for intragenic deletion in 18 exons and Pm region of the DMD gene using multiplex PCR. Of these 41 (62.1%) showed intragenic deletions. 78% of the deletions were located at the distal hotspot region (44-55 exons) and 22% of the deletions were located at the proximal region (exon 2-19). Exon 50 is most frequently deleted. Deletions in isolated cases were significantly more compared to familial cases. The lower incidence reported from South India compared to North India, is suggestive of variations in the Southern and Northern population.

Item Type:	Article
Additional Information:	[Open Access from Publisher]
Depositing User:	Users 2 not found.
Date Deposited:	01 Oct 2015 11:21
Last Modified:	24 Aug 2017 07:49
URI:	http://cdfd.sciencecentral.in/id/eprint/538

Actions (login required)

View Item