PT  - JOURNAL ARTICLE
AU  - Kodroń, Agata
AU  - Krawczyński, Maciej R
AU  - Tońska, Katarzyna
AU  - Bartnik, Ewa
TI  - m.3635G>A mutation as a cause of Leber hereditary optic neuropathy
AID  - 10.1136/jclinpath-2014-202192
DP  - 2014 Jul 01
TA  - Journal of Clinical Pathology
PG  - 639--641
VI  - 67
IP  - 7
4099  - http://jcp.bmj.com/content/67/7/639.short
4100  - http://jcp.bmj.com/content/67/7/639.full
SO  - J Clin Pathol2014 Jul 01; 67
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.