Erratum: Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance (The American Journal of Human Genetics (2013) 93 (471-481))

摘要

(The American Journal of Human Genetics 93, 471-481; September 5, 2013)The last sentence of the legend for Figure 1 appeared in print erroneously as ".. .and c.1703G>CGC (S3) mutations." The text should have read "...and c.1703G>C (S3) mutations." The corrected legend appears here. The Journal regrets this error.Figure 1. Genetic Investigation of the Families Confirms Segregation with Disease of Recessive FBXL4 Mutations The pedigrees of SI (A), S2 (B), and S3 (C) are shown, highlighting the consanguineous nature of each family. The pro-bands are indicated by black arrows, and all individuals presenting with similar clinical features are shown as filled black symbols (pedigrees are drawn to accepted standards37). A sequencing chromatogram obtained by targeted resequencing is shown for each proband, confirming the presence of the c.1555C>T (p.Gln519*) (SI), c.1303C>T (p.Arg435*) (S2), and c.1703G>C (S3) mutations.