PMC:2495064 / 10560-11171 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/2495064","sourcedb":"PMC","sourceid":"2495064","source_url":"https://www.ncbi.nlm.nih.gov/pmc/2495064","text":"Mutations Not Present in Maternal Samples\nNo matched maternal sample was available for seven of the positive cases, but in eight cases it was possible to study a maternal blood sample taken at the time of delivery of the offspring. mtDNA mutations were not detectable in the blood of three mothers, with one harboring m.11778G→A, and two harboring m.3243A→G. This provides an approximation of the de novo mutation for mtDNA defects at 107/100,000 live births (95% CI = 87–127). Two of the mothers, accounting for the three homoplasmic offspring with LHON mutations, were also homoplasmic for the mtDNA mutation.","divisions":[{"label":"title","span":{"begin":0,"end":41}}],"tracks":[]}