Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita

Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in CLCN1 that encodes the major skeletal muscle chloride channel, ClC-1. This channel is important for the normal repolarization of muscle action potentials and consequent rel...

Täydet tiedot

Bibliografiset tiedot
Päätekijät: Sabrina Lucchiari, Francesco Fortunato, Giovanni Meola, Andrea Mignarri, Serena Pagliarani, Stefania Corti, Giacomo P. Comi, Dario Ronchi
Aineistotyyppi: Artikkeli
Kieli:English
Julkaistu: Frontiers Media S.A. 2024-12-01
Sarja:Frontiers in Genetics
Aiheet:
myotonia congenita
CLCN1
Western blot
splicing
exonic splicing silencer
Linkit:https://www.frontiersin.org/articles/10.3389/fgene.2024.1486977/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2024.1486977/full

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