Figure 1.

Pedigrees. Arrows indicate probands, who are heterozygous for both the SQSTM1 and TIA1 variants and have a muscle biopsy-proven myopathy. (A) Family 1. Proband 1’s asymptomatic sister (II.2) carries neither variant; the two asymptomatic sons carry neither variant nor the SQSTM1 variant. (B). Family 2. One of Proband 2’s asymptomatic children harbors the TIA1 variant. (C). Family 3. Affected dizygotic twin siblings carry both TIA1 and SQSTM1 variants (only the probands underwent muscle biopsy). The asymptomatic son and daughter carry neither variant nor only the TIA1 variant. As some of the probands’ children elected not to learn about their genetic status, carriers of specific variants are not indicated. (All living affected subjects were examined; the asymptomatic individuals were examined and had no weakness or were interviewed over the phone and denied weakness and symptoms suggestive of myopathy.)