Pyruvate dehydrogenase complex (PDC) deficiency caused by mutations in the X-linked PDHA1 gene has a broad clinical presentation, and the pattern of X-chromosome inactivation has been proposed as a major factor contributing to its variable expressivity in heterozygous females. Here, we report the first set of monozygotic twin females with PDC deficiency, caused by a novel, de novo heterozygous missense mutation in exon 11 of P...

The Arctic is undergoing dramatic environmental change with rapidly rising surface temperatures, accelerating sea ice decline and changing snow regimes, all of which influence tundra plant phenology. Despite these changes, no globally consistent direction of trends in spring phenology has been reported across the Arctic. While spring has advanced at some sites, spring has delayed or not changed at other sites, highlighting sub...

Aim We investigated the phylogeographical history of a clonal‐sexual orchid, to test the hypothesis that current patterns of genetic diversity and differentiation retain the traces of climatic fluctuations and of the species reproductive system. Location Europe, Siberia and Russian Far East. Taxon Cypripedium calceolus L. (Orchidaceae). Methods Samples (>900, from 56 locations) were genotyped at 11 nuclear microsatellite loci...