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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...

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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

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