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Neuromuscul Disord. 2013 Jan;23(1):15-8. doi: 10.1016/j.nmd.2012.07.001. Epub 2012 Sep 15.

Coexistence of two distinct intragenic dystrophin deletions in two maternal cousins with Duchenne Muscular Dystrophy.

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  • 1Department of Medical Biology, Hacettepe University Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey.

Abstract

The identification of two independent mutations is rarely described between affected members of the same family with Duchenne Muscular Dystrophy. This study reports the presence of two distinct intragenic dystrophin deletions in a Turkish family. Exon 54 deletion was identified originally in the proband, whereas his maternal cousin had deletions of exons 43-50 in the dystrophin gene. As indicated, only the mother of the proband was identified as exon 54 deletion carrier however, the proband's cousin was detected as a sporadic case. These molecular genetic data reveal an interesting and novel mixture, in the same family, of both mutations of the same gene.

PMID:
22985905
DOI:
10.1016/j.nmd.2012.07.001
[PubMed - indexed for MEDLINE]
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