A Childhood-Onset Nemaline Myopathy Caused by Novel Compound Heterozygote Variants in the Nebulin Gene

Abstract

Congenital myopathies are clinically and genetically heterogeneous disorders, which often remain genetically undiagnosed for many years. Here we present a 20-year-old patient showing gradually deteriorated proximal muscle weakness and rod-shaped structures found in muscle fibers was suspected of having nemaline myopathy. Whole-exome sequencing and subsequent Sanger sequence analysis for the patient revealed a pathogenic mutation in NEB gene c.21522+3 (IVS 144) A>G and c.23722 (exon 165) A>T. Based on genetic analyses, we identified two novel, compound- heterozygous variants in the NEB gene, which cause a childhood- onset nemaline myopathy.