Journal
JOURNAL OF CLINICAL PATHOLOGY
Volume 67, Issue 7, Pages 639-641Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/jclinpath-2014-202192
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Funding
- National Science Centre [2011/03/N/NZ3/00655]
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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.
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