Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1? subunit
β Scribed by Cameron, Jessie M. ;Levandovskiy, Valeriy ;MacKay, Neviana ;Tein, Ingrid ;Robinson, Brian H.
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 596 KB
- Volume
- 131A
- Category
- Article
- ISSN
- 0148-7299
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Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E,a gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polymerase chain reaction amplification of the whole cod
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## Abstract Prenatal depiction of brain dysgenesis in patients with pyruvate dehydrogenase complex (PDHc) deficiencies has been infrequently reported. As PDHc plays a critical role in the brain that obtains all of the energy from the aerobic oxidation of glucose, its deficiency is a severe inborn d