ACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures: A case report and review of literature

Table 1 Gene sequencing data of the ACTA2 in the patient

Item	Results
Nucleotide changes	c.536G>A
NM No.	NM_001613.2
Homozygous/heterozygous mutation	Heterozygous mutation
Amino acid changes	p.R179H
Minor allele frequency	N/A
Pathogenicity	Pathogenic mutation
Disease/phenotype	Multi-systemic smooth muscle dysfunction syndrome
Genetic type	Autosomal dominant
Mutation source	Newly identified