PMC8586648_01
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).
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F1
Besides, there was no history of other genetic or infectious diseases in his family (Figure 1A).