ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro

Myotonic dystrophy type 2 (DM2) is caused by CCTG-repeat expansions. Occurrence of splicing and mutations in the muscle chloride channel gene CLCN1 have been reported to contribute to the phenotype. To examine the effect of CLCN1 in DM2 in Germany, we determined the frequency of a representative ClC...

Descripción completa

Detalles Bibliográficos
Autores principales: URSU, SIMONA-FELICIA, ALEKOV, ALEXI, MAO, NING-HUI, JURKAT-ROTT, KARIN
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SpA 2012
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3476861/
https://www.ncbi.nlm.nih.gov/pubmed/23097607

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3476861/
https://www.ncbi.nlm.nih.gov/pubmed/23097607

Ejemplares similares