Dystrophin gene deletions in South Indian Duchenne muscular dystrophy patients.
Indian J Med Sci
;
2003 Jan; 57(1): 1-6
Article
in English
| IMSEAR
| ID: sea-66395
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Humans
/
Dystrophin
/
Gene Deletion
/
Muscular Dystrophy, Duchenne
/
India
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Med Sci
Year:
2003
Type:
Article
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