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. 2017 Mar 14;88(11):1021–1028. doi: 10.1212/WNL.0000000000003720

Figure 2. Familial hypotonia, arthrogryposis, and respiratory failure: Clinical and genetic characteristics.

Figure 2

(A) Yemeni Jewish family with extreme hypotonia, severe arthrogryposis, and respiratory failure in 2 of 7 children. Genotypes of SLC18A3 c.1078 G>C, p.Gly360Arg are indicated below each sampled individual. (B) X-ray of III-3 at age 4 days illustrates the endotracheal tube, widespread opacities in both lungs, and arthrogryposis. (C) Sequences of SLC18A3 c.1078 G>C in genomic DNA of an unrelated control with wild-type (WT) sequence, and of family members who are heterozygous (HET) and homozygous (HOM) for the mutation. The 2 youngest sisters were not available for analysis. Nucleotides and expected amino acid sequence are shown above the chromatograms.