Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy

Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy

Myotonic dystrophy type 2 (DM2) is a dominantly inherited disorder with multisystemic clinical features, caused by a CCTG repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene. The mutant transcripts are retained in the nucleus forming multiple discrete foci also called ribonuclear i...

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Bibliographic Details
Main Authors: R Cardani, E Mancinelli, V Sansone, G Rotondo, G Meola
Format: Article
Language:English
Published: PAGEPress Publications 2009-06-01
Series:European Journal of Histochemistry
Online Access:https://www.ejh.it/index.php/ejh/article/view/918

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