Knierim et al. presented a patient with congenital myopathy, deafness and neuropathy who had a homozygous nonsense mutation in SPTBN4 [c.1597C>T, NM_020971.2; p.(Q533*), NP_066022.2; ClinVar SUB2292235] encoding β4-spectrin, a non-erythrocytic member of the β-spectrin family. The gene discussed is SPTBN4; the disease is neuropathy.