Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1915763 | Journal of the Neurological Sciences | 2008 | 4 Pages |
Abstract
A six year old boy presented with classical features of Duchenne Muscular Dystrophy (DMD) and was confirmed by absent dystrophin staining on muscle biopsy. In the paternal line there were 5 affected individuals across two generations with classical DMD. There was no family history of the illness in the maternal line. Molecular genetics analysis by PCR of the exons showed a deletion in exon 45 in two affected individuals. Microsatellite analysis showed that though the deletion was observed in the same locus in exon 45 it is a new independent mutation.
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Authors
Meera Purushottam, A. Ram Murthy, G.N. Shubha, N. Gayathri, A. Nalini,