PMC:4385177 / 26097-26787 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4385177","sourcedb":"PMC","sourceid":"4385177","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4385177","text":"Figure 1 Genetic Pedigrees for Families Affected by Mutations in HPCA\nAbbreviated genetic pedigrees are shown for the core members of (A) the index family and (B) the second family identified to be affected by compound-heterozygous mutations in HPCA. For the family in (B), the results of the segregation analysis are shown under each individual: WT, wild-type allele; M1, c.212C\u003eA (p.Thr71Asn) mutation; M2, c.568G\u003eC (Ala190Thr) mutation. The results are consistent with AR inheritance of dystonia due to biallelic mutations in HPCA. Individual II:6 did not report any symptoms suggestive of dystonia; however, this could not be confirmed by examination because he did not live in the UK.","divisions":[{"label":"label","span":{"begin":0,"end":8}},{"label":"p","span":{"begin":10,"end":70}}],"tracks":[]}