PMC:5069600 / 18552-19338 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/5069600","sourcedb":"PMC","sourceid":"5069600","source_url":"https://www.ncbi.nlm.nih.gov/pmc/5069600","text":"Figure 3 Pedigrees and segregation analysis of MME mutations in 10 families. P1, P2, P4, P5, P7, and P10 have consanguineous parents. P3, P6, and P9 have unaffected parents with affected siblings, and P8 was sporadic. Autosomal‐recessive inheritance is presumed in all pedigrees. A DNA sample was available from individuals marked with an asterisk. Affected members have a homozygous or compound heterozygous mutation, whereas unaffected members were heterozygous or wild‐type carriers. Squares represent males and circles represent females. Filled symbols represent those affected with a similar phenotype. Oblique lines represent deceased family members. Black arrows indicate the proband (P1–P10). +/+ = homozygous for mutation; +/− = heterozygous; −/− = homozygous for wild type.\nF","tracks":[]}