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Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation
Author(s) -
Tarnopolsky Mark A.,
Baker Steven K.,
Myint Tomoko,
Maxner C.E.,
Robitaille J.,
Robinson Brian H.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20449
Subject(s) - dystonia , spasticity , leber's hereditary optic neuropathy , medicine , optic neuropathy , mutation , putamen , genetics , biology , endocrinology , physical medicine and rehabilitation , anatomy , optic nerve , psychiatry , gene
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 spasticity/dystonia was a high T2 signal in the putamen bilaterally. The male patient in the second pedigree showed features of optic neuropathy without spasticity/dystonia. These results further support that the 14,459 G → A transition mutation is causally related to LHON and spasticity/dystonia. © 2003 Wiley‐Liss, Inc.