case_images: PMC8586648_01
case_images: The pedigree of the Chinese family with HypoPP and the result of Sanger sequencing. (A), The pedigree of the Chinese family. The black box represents the HypoPP individual; the black point represents the myasthenic phenotype. (B), Analysis of the DNA sequence. Electropherograms show the sequence encompassing the heterozygous frameshift mutation c.1364delA (p.Asn455fs) in CACNA1S in the proband (II-1) and his mother (I-2).
case_images: fgene-12-743184-g001.jpg
case_images: PMC8586648_01_fgene-12-743184-g001.jpg
case_images: F1
case_images: Besides, there was no history of other genetic or infectious diseases in his family (Figure 1A).