title: 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 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.
authors.affiliation: Molecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, India.
authors.forename: Meera
authors.initials: M
authors.lastname: Purushottam
authors.forename: A Ram
authors.initials: AR
authors.lastname: Murthy
authors.forename: G N
authors.initials: GN
authors.lastname: Shubha
authors.forename: N
authors.initials: N
authors.lastname: Gayathri
authors.forename: A
authors.initials: A
authors.lastname: Nalini
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D007194:India; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D016189:Dystrophin