Fig. 1.

Pedigrees of the studied families. The DNA of the persons indicated by asterisk (*) was studied, persons crossed with diagonal lines were deceased. Representative capillary sequencing chromatograms are shown to the right. (A) In family A, the heterozygous deletion of a single adenine residue [c.505delA, HSPB1 (NM_001540.3)] is highlighted by the vertical box. The deletion leads to a frame shift causing superimposed curves in the sequence that follows (arrow, note that sequencing direction is right to left). (B) In family B, the heterozygous guanine to thymidine nucleotide change [c.380G > T, HSPB1 (NM_001540.3)] is indicated by the vertical box (arrow).