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Items: 3

1.

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

Grafakou O, Oexle K, van den Heuvel L, Smeets R, Trijbels F, Goebel HH, Bosshard N, Superti-Furga A, Steinmann B, Smeitink J.

Eur J Pediatr. 2003 Oct;162(10):714-8. Epub 2003 Aug 19.

PMID:
12925875
2.

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.

Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP.

Hum Mutat. 2005 Mar;25(3):323-4. Review.

PMID:
15712224
3.

Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.

Procaccio V, Wallace DC.

Neurology. 2004 May 25;62(10):1899-901. Review.

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