Pedigree. Subjects with DNA samples available and tested are labeled with their identification number. Black-filled symbols represent individuals affected with HIBM2, with onset in their 20s or 30s. Tested patients were compound heterozygous with genotype NM_005476.5: c.[1816+5G>A]+[2086G>A]. The gray-filled symbol represents an individual presenting in his 70s with mild HIBM-like symptoms, with genotype NM_005476.5: c.[1816+5G>A]+[=]. Arrow indicates the proband.