Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies

Myotonic dystrophy type 2 (DM2) is a dominantly inherited disorder caused by a CCTG repeat expansion in intron 1 of ZNF9 gene. The size and the somatic instability of DM2 expansion complicate the molecular diagnosis of DM2. In situ hybridization represents a rapid and sensitive method to obtain a de...

Descripción completa

Detalles Bibliográficos
Autores principales: Cardani, R., Mancinelli, E., Giagnacovo, M., Sansone, V., Meola, G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications 2009
Materias:
Technical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3167286/
https://www.ncbi.nlm.nih.gov/pubmed/30256867
http://dx.doi.org/10.4081/ejh.2009.e13

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3167286/
https://www.ncbi.nlm.nih.gov/pubmed/30256867
http://dx.doi.org/10.4081/ejh.2009.e13

Ejemplares similares