doi: 10.1212/wnl.36.8.1053.
Leber's disease and dystonia: a mitochondrial disease
- PMID: 3736869
- DOI: 10.1212/wnl.36.8.1053
Item in Clipboard
Leber's disease and dystonia: a mitochondrial disease
Neurology.
1986 Aug.
Abstract
We studied a kindred in which 8 members had the neuroretinopathy of Leber's disease; 14 had a progressive, generalized dystonia attributed to striatal degeneration; and 1 had both disorders. The mode of inheritance was compatible with maternal transmission. This neurologic disorder may be a mitochondrial disease.
Similar articles
-
Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation.Ann Neurol. 1995 Aug;38(2):163-9. doi: 10.1002/ana.410380207. Ann Neurol. 1995. PMID: 7654063
-
Familial dystonia and visual failure with striatal CT lucencies.J Neurol Neurosurg Psychiatry. 1986 May;49(5):500-9. doi: 10.1136/jnnp.49.5.500. J Neurol Neurosurg Psychiatry. 1986. PMID: 3711913 Free PMC article.
-
Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members.Arch Ophthalmol. 1982 Oct;100(10):1597-602. doi: 10.1001/archopht.1982.01030040575003. Arch Ophthalmol. 1982. PMID: 7138328
-
[Past, present, and future in Leber's hereditary optic neuropathy].Nippon Ganka Gakkai Zasshi. 2001 Dec;105(12):809-27. Nippon Ganka Gakkai Zasshi. 2001. PMID: 11802455 Review. Japanese.
-
Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.In Vivo. 2017 Jul-Aug;31(4):511-525. doi: 10.21873/invivo.11090. In Vivo. 2017. PMID: 28652416 Free PMC article. Review.
Cited by
-
The optic nerve: a "mito-window" on mitochondrial neurodegeneration.Mol Cell Neurosci. 2013 Jul;55(100):62-76. doi: 10.1016/j.mcn.2012.08.004. Epub 2012 Aug 15. Mol Cell Neurosci. 2013. PMID: 22960139 Free PMC article. Review.
-
Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis.Hum Genet. 1989 Jun;82(3):203-7. doi: 10.1007/BF00291154. Hum Genet. 1989. PMID: 2731932
-
Molecular basis of mitochondrial DNA disease.J Bioenerg Biomembr. 1994 Jun;26(3):273-89. doi: 10.1007/BF00763099. J Bioenerg Biomembr. 1994. PMID: 8077181 Review.
-
Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.J Neurol Neurosurg Psychiatry. 1992 Jan;55(1):16-9. doi: 10.1136/jnnp.55.1.16. J Neurol Neurosurg Psychiatry. 1992. PMID: 1548491 Free PMC article.
-
Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy.Hum Genet. 1991 Nov;88(1):98-100. doi: 10.1007/BF00204937. Hum Genet. 1991. PMID: 1959931
Publication types
MeSH terms
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
