Why the study?
Congenital myopathies are clinically and genetically heterogeneous disorders that often remain genetically undiagnosed for many years.
Identified two novel compound-heterozygous variants in the NEB gene as the cause of childhood-onset nemaline myopathy in a 20-year-old patient.
Supports expanded NEB testing in undiagnosed myopathies; leaves open validation of these variants in larger cohorts.
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.
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Xu et al. (2023) studied this question.
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