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Poster 79: Peripheral Neuropathy in a Patient With Pyruvate Dehydrogenase Complex Deficiency: A Case Report

✍ Scribed by John G. Sollenberger; Jeffrey R. Conly; Chong-Tae Kim


Book ID
116237627
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
39 KB
Volume
89
Category
Article
ISSN
1532-821X

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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