Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation
Fig 1
(A) The pedigree with myotonia congenital and hypokalemic periodic paralysis type 2. (B) Sanger sequencing revealed a homozygous p.F306S CLCN1 mutation in V: 5 and V: 6, while IV: 2 and VI: 3 carried a heterozygous sequence. There was a heterozygous p.R222W SCN4A mutation in V.7 and VI.3.