{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T19:39:13Z","timestamp":1790969953176,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[1992,6,16]],"date-time":"1992-06-16T00:00:00Z","timestamp":708652800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1992,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Three female patients are described with pyruvate dehydrogenase (PDH) deficiency as a result of mutation in the X\u2010linked gene for the E1\u03b1 subunit of the complex. Two of these patients illustrate typical presentations of PDH E1\u03b1 deficiency, with severe neurological dysfunction, degenerative changes and developmental anomalies in the brain, together with variable lactic acidosis. The third patient extends the known spectrum of the condition to include mild to moderate mental retardation and seizures in an adult. All three patients have the same mutation in the PDH E1\u03b1 gene. This mutation, a C\u2010to\u2010T substitution in a CpG dinucleotide in amino acid codon 302 (designated R302C), results in the replacement of arginine by cysteine at this position. The mildly affected adult was the mother of one of the other patients, making this the first described instance of mother\u2010to\u2010daughter transmission of a mutation causing PDH E1\u03b1 deficiency. The genetic basis of the variable expression of X\u2010linked PDH E1\u03b1 deficiency in heterozygous females is discussed.<\/jats:p>","DOI":"10.1007\/bf01800219","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:08:14Z","timestamp":1119373694000},"page":"835-847","source":"Crossref","is-referenced-by-count":43,"title":["X\u2010linked pyruvate dehydrogenase E1\u03b1 subunit deficiency in heterozygous females: Variable manifestation of the same mutation"],"prefix":"10.1002","volume":"15","author":[{"given":"H\u2010H. M.","family":"Dahl","sequence":"first","affiliation":[{"name":"Murdoch Institute for Research into Birth Defects Royal Children's Hospital  Melbourne"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. L.","family":"Hansen","sequence":"additional","affiliation":[{"name":"Murdoch Institute for Research into Birth Defects Royal Children's Hospital  Melbourne"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. M.","family":"Brown","sequence":"additional","affiliation":[{"name":"Murdoch Institute for Research into Birth Defects Royal Children's Hospital  Melbourne"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. M.","family":"Danks","sequence":"additional","affiliation":[{"name":"Murdoch Institute for Research into Birth Defects Royal Children's Hospital  Melbourne"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. G.","family":"Rogers","sequence":"additional","affiliation":[{"name":"Murdoch Institute for Research into Birth Defects Royal Children's Hospital  Melbourne"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. K.","family":"Brown","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Melbourne  Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1992,6,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.7.1931"},{"key":"e_1_2_1_3_1","first-page":"645","article-title":"Specific methylation at the hypervariable DXS255 locus on active X chromosomes: a simple system for the assessment of X inactivation status","volume":"25","author":"Boyd Y","year":"1988","journal-title":"J. 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