English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Myotonia congenita (MC) is a group of genetically and clinically heterogeneous congenital neuromuscular channelopathies, typically characterized by the delayed relaxation of the muscles after voluntary contraction, stiffness, hypertrophy, transient weakness, and cramping. MC is caused by mutations in the skeletal muscle chloride channel gene (CLCN1 [OMIM 118425]) and the skeletal muscle sodium channel gene (SCN4A [OMIM 603967]). The Nav1.4 voltage-gated sodium channel encoded by SCN4A is a transmembrane complex that consists of an α subunit associated with an auxiliary β subunit in the muscle. The α subunit is composed of four homologous domains (I–IV), and each domain contains six α-helical transmembrane segments (S1–S6). Mutations clustered in specific areas of the Nav1.4 channel associate with distinct phenotypes according to their positions in the protein.

Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis