Dominantly inherited mutations in Bcl-2-associated athanogene 3 (BAG3) cause a severe myofibrillar myopathy, cardiomyopathy and axonal neuropathy. BAG3 is a heat shock protein 70 (HSP70) co-chaperone that links small heat shock proteins (sHSPs) such as HspB8 to HSP70. Only two missense mutations have been reported to cause skeletal muscle weakness and both reside in the same proline residue (P209L and P209Q). This residue is within the second IPV motif that is needed for sHSP interactions. To expand the genetics of myofibrillar myopathy, we performed whole exome sequencing on genetically uncharacterized myofibrillar myopathy patients and identified two unrelated patients with the same a novel missense c.1408C > T; p.P470S variant in BAG3.

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