Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity-Reference-Cited by-同舟云学术

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity

Published:2006-07-15 Issue:14 Volume:140A Page:1542-1552
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Cameron Jessie M.,Levandovskiy Valeriy,MacKay Neviana,Raiman Julian,Renaud Deborah L.,Clarke Joe T.R.,Feigenbaum Annette,Elpeleg Orly,Robinson Brian H.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference15 articles.

1. Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

2. Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency

3. Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del)

4. Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: Possible beneficial effect of vitamin therapy

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