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...
Furkejuvvon:
| Váldodahkkit: | , , , , , , , |
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| Materiálatiipa: | Artigo |
| Giella: | Inglês |
| Almmustuhtton: |
Frontiers Media S.A.
2024-12-01
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| Ráidu: | Frontiers in Genetics |
| Fáttát: | |
| Liŋkkat: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1486977/full |
| Fáddágilkorat: |
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