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...

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Veröffentlicht in:	Acta myologica 2012-10, Vol.31 (2), p.144-153
Hauptverfasser:	Ursu, Simona-Felicia, Alekov, Alexi, Mao, Ning-Hui, Jurkat-Rott, Karin
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Blotting, Western Chloride Channels - genetics Female Humans In Vitro Techniques Male Microscopy, Confocal Myotonic Disorders - genetics Myotonic Dystrophy Original Patch-Clamp Techniques Protein Transport Real-Time Polymerase Chain Reaction RNA Splicing
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