Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations

Journal of Medical Genetics

Volumn 35, Issue 3, 1998, Pages 258-259

  Albin, Roger L ^a,b  

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^b Neuroscience Laboratory Building   (United States)

Author keywords

Leber's hereditary optic neuropathy; LHON

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; ATAXIA; CASE REPORT; CONGENITAL CORNEA DYSTROPHY; CORNEA ENDOTHELIUM; DIABETES MELLITUS; FEMALE; HEART MUSCLE CONDUCTION DISTURBANCE; HUMAN; HUMAN CELL; HYPERREFLEXIA; LYMPHOCYTE; MISSENSE MUTATION; PERCEPTION DEAFNESS; PRIORITY JOURNAL;

ATAXIA;

EID: 0031895167     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.3.258     Document Type: Article

References (7)

1. Shoffner JM, Wallace DC. Oxidative phosphorylation diseases. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The metabolic and molecular bases of inherited diseases. 7th ed. New York: McGraw Hill, 1995.
2. Wallace DC. A new manifestation of Leber's disease and a new explanation of the agency responsible for its unusual pattern of inheritence. Brain 1970;93:121-32.
3. Harding AE, Sweeney MG, Muller DH, et al. Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 1992;115:979-89.
4. Flanigan KM, Johns DR. Association of the 11778 mitochondrial DNA mutation and demyelinating disease. Neurology 1993;43:2720-2.
5. McCartney MD, Robertson DP, Wood TO, McLaughlin BJ. ATPase pump site density in human dysfunctional corneal endothelium. Invest Opthalmol Vis Sci 1987;28:1955-62.
6. Tuberville AW, Wood TO, McLaughlin BJ. Cytochrome oxidase activity of Fuch's endothelial dystrophy. Curr Eye Res 1986;5:939-47.
7. Magovern M, Beauchamp GR, McTigue JW, Fine BS, Baumiller RC. Inheritence of Fuch's combined dystrophy. Ophthalmology 1979;86:1987-23.