CACNA1H mutations are linked to calcium channel alterations in congenital amyoplasia


  • A loss-of-function in voltage-gated T-type calcium channel Cav3.2 suggests severe congenital amyoplasia may be related to mutations in CACNA1H.

Why this matters

    Gaining further insight into the mutations associated with congenital amyoplasia is important for improving genetic diagnosis and current management strategies.