"Genes associated with Nemaline Myopathy were sequenced. Four mutations in NEB (c.17779_17780delTA c.11086A>C c.21076C>T and c.2310+5G>A) and one mutation in ACTA1 (c.871A>T) were found in four patients. Three of the four mutations in NEB were novel. A cDNA sequencing assay of the novel variants c.17779_17780delTA c.11086A>C and c.2310+5G>A revealed that the intronic variant c.2310+5G>A affected the splicing process."xsd:string