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

J Neurol Sci. 2008 May 15;268(1-2):179-82. doi: 10.1016/j.jns.2007.10.025. Epub 2007 Nov 26.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • DNA Mutational Analysis
  • Dystrophin / genetics*
  • Exons / genetics
  • Humans
  • India
  • Male
  • Microsatellite Repeats / genetics*
  • Muscle, Skeletal / pathology
  • Muscular Dystrophy, Duchenne / genetics*
  • Muscular Dystrophy, Duchenne / pathology
  • Pedigree*
  • Sequence Deletion / genetics*

Substances

  • Dystrophin