Journal article
Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation
Abstract
Spasticity and dystonia have been associated with mitochondrial (mt) DNA mutations at A11696G, G14459A, and T14596A. We describe the clinical features and molecular analysis of two Caucasian pedigrees with the 14,459 guanosine (G) --> adenine (A) transition. The maternally inherited Leber hereditary optic neuropathy (LHON) phenotypes showed extreme clinical variability and the only screening test that was abnormal in the patient with …
Authors
Tarnopolsky MA; Baker SK; Myint T; Maxner CE; Robitaille J; Robinson BH
Journal
American Journal of Medical Genetics Part A, Vol. 124A, No. 4, pp. 372–376
Publisher
Wiley
Publication Date
February 2004
DOI
10.1002/ajmg.a.20449
ISSN
1552-4825