Literature DB >> 9438147

Association of the LHON 13,708 and 15,257 mitochondrial DNA mutations with neurodegenerative diseases distinct from LHON.

G Rödel1, R Laubhan, A Scheuerle, P Skowronek, O Haferkamp.   

Abstract

300 patients suffering from neurodegenerative diseases distinct from Leber hereditary optic neuropathy (LHON) were screened for the presence of mitochondrial DNA mutations. We report on nine patients, eight female and one male, who all harboured mutations at positions 13,708 and 15,257 of the mitochondrial DNA. Both mutations have previously been claimed to be associated with LHON. Based on our results, these mutations occur in a number of different neurodegenerative diseases and therefore cannot be regarded as "LHON" mutations.

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Year:  1996        PMID: 9438147

Source DB:  PubMed          Journal:  Eur J Med Res        ISSN: 0949-2321            Impact factor:   2.175


  2 in total

1.  Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations.

Authors:  S Hofmann; R Bezold; M Jaksch; P Kaufhold; B Obermaier-Kusser; K D Gerbitz
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

Review 2.  Leber's hereditary optic neuropathy is multiorgan not mono-organ.

Authors:  Josef Finsterer; Sinda Zarrouk-Mahjoub
Journal:  Clin Ophthalmol       Date:  2016-11-02
  2 in total

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