Although nemaline myopathy was considered another possibility, prior analysis of NEB (NM_001271208.1) had been limited to testing for a founder deletion involving exon55.22 Exome sequencing identified rare biallelic variants in NEB in both siblings: c.78+1G>A in trans with a novel c.21489‐21493dupGACTG; p.A7165fs*84. Here, NEB is linked to nemaline myopathy.