A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review

We report two novel compound heterozygous variants in nebulin gene in a family residing in China. One is an intron event caused by an underlying variant at the +  3 position of the donor site. Another is a novel nonsense variant, which may lead to the end of protein translation and have a significant impact on protein function. The pathogenicity of this novel compound heterozygous variant remains to be verified. Variants reported here could help to diagnos e NM for clinicians.
Source: Acta Neurologica Belgica - Category: Neurology Source Type: research