RT Journal Article
SR Electronic
T1 m.3635G>A mutation as a cause of Leber hereditary optic neuropathy
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 639
OP 641
DO 10.1136/jclinpath-2014-202192
VO 67
IS 7
A1 Agata Kodroń
A1 Maciej R Krawczyński
A1 Katarzyna Tońska
A1 Ewa Bartnik
YR 2014
UL http://jcp.bmj.com/content/67/7/639.abstract
AB Over 90% of Leber's hereditary optic neuropathy (LHON) is caused by one of three mtDNA mutations (m.11778A>G, m.3460G>A, m.14484T>C). The remaining cases are due to rare mutations in different genes encoding subunits of the respiratory chain. The proband is a 17-year-old male with symptoms of optic nerve atrophy. No common LHON mutations were found, but detailed sequencing identified a rare, homoplasmic mutation m.3635G>A in the ND1 gene.