Treatment of “permanent” muscle weakness in familial hypokalemic periodic paralysis

Identification of mutations in the CACNL

Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families

✍ Sillén, Anna; Sørensen, Troels; Kantola, Ilkka; Friis, Mogens Laue; Gustavson, K 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 136 KB 👁 3 views

Familial hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder characterised by episodic attacks of paralysis of varying severity. Recently, linkage was found to markers in 1q31-32 and to the gene encoding the muscle DHP-sensitive calcium channel ␣ 1-subunit (CACNL1A3). Subsequen