Paternal inheritance or a de novo mutation in a Duchenne Muscular Dystrophy pedigree from South India

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 il...

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Veröffentlicht in:Journal of the neurological sciences 2008-05, Vol.268 (1), p.179-182
Hauptverfasser: Purushottam, Meera, Ram Murthy, A, Shubha, G.N, Gayathri, N, Nalini, A
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Sprache:eng
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