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. 2018 Aug 14;27(23):4036–4050. doi: 10.1093/hmg/ddy290

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Pedigrees of families. Pedigrees of families with hereditary neuropathies as indicated in the figure. Tested individuals are marked by circles; solid line: tested positive for respective AARS mutation, dashed line: tested negative for AARS mutation. III.41,42: only one of the two individuals were tested. The mutations found were the following: c.1880C > T, p.Ser627Leu (H9), c.1009G > A, p.Glu337Lys (H19) and c.976GC > T, p.Arg326Trp (L21). Filled symbols indicate affected patients. Grey symbols: probably affected, said to be affected or no detailed neurologic examination. Open symbols: not affected. The family individuals are numbered consecutively from left to right. The index patient of each family is indicated by an arrow.