Leber hereditary optic neuropathy and dystonia

Definition:

Leber hereditary optic neuropathy and dystonia (LDYT) is a maternally-inherited mitochondrial disorder characterized by variable combinations of visual loss and progressive generalized dystonia. LDYT is a unique oxidative phosphorylation disorder caused by mutations in mitochondrial DNA.

References:

[1]. A S Jun, et al. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci U S A. 1994 Jun 21;91(13):6206-10. [Content Brief]

[2]. Kang Wang, et al. Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. Neurogenetics. 2009 Oct;10(4):337-45. [Content Brief]

[3]. Liesbeth Spruijt, et al. A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. Arch Neurol. 2007 Jun;64(6):890-3. [Content Brief]

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