prikaz prve stranice dokumenta Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families
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Scientific paper - Original scientific paper
Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families
Collegium Antropologicum, 30 (2006), 1; 171-174. urn:nbn:hr:105:409054
Martin-Kleiner, Irena; Gabrilovac, Jelka; Bradvica, Mario; Vidović, Tomislav; Cerovski, Branimir; Fumić, Ksenija; Boranić, Milivoj

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Martin Kleiner, I., Gabrilovac, J., Bradvica, M., Vidović, T., Cerovski, B., Fumić, K. & Boranić, M. (2006). Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families. Collegium Antropologicum, 30. (1), 171-174. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:409054

Martin Kleiner, Irena, et al. "Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families." Collegium Antropologicum, vol. 30, no. 1, 2006, pp. 171-174. https://urn.nsk.hr/urn:nbn:hr:105:409054

Martin Kleiner, Irena, Jelka Gabrilovac, Mario Bradvica, Tomislav Vidović, Branimir Cerovski, Ksenija Fumić and Milivoj Boranić. "Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families." Collegium Antropologicum 30, no. 1 (2006): 171-174. https://urn.nsk.hr/urn:nbn:hr:105:409054

Martin Kleiner, I., et al. (2006) 'Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families', Collegium Antropologicum, 30(1), pp. 171-174. Available at: https://urn.nsk.hr/urn:nbn:hr:105:409054 (Accessed 14 July 2024)

Martin Kleiner I, Gabrilovac J, Bradvica M, Vidović T, Cerovski B, Fumić K, and sur.. Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families. Collegium Antropologicum [Internet]. 2006 March [cited 2024 July 14];30(1):171-174. Available at: https://urn.nsk.hr/urn:nbn:hr:105:409054

I. Martin Kleiner, et al., "Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families", Collegium Antropologicum, vol. 30, no. 1, pp. 171-174, March 2006. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:409054. [Accessed: 14 July 2024]

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Metadata
Title (english)Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families
AuthorIrena Martin-Kleiner
AuthorJelka Gabrilovac
AuthorMario Bradvica
AuthorTomislav Vidović
AuthorBranimir Cerovski
AuthorKsenija Fumić
AuthorMilivoj Boranić
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
Background: LHON is LEBER's hereditary optic neuroretinopathy with bilateral acute or subacute loss of central vision due to optic atrophy. It is linked to point mutations of mitochondrial DNA. Mitochondrial DNA (mtDNA) is a small circular molecule of 16,5 kB, which encodes the enzymes of the respiratory chain in mitochondria. It is inherited maternally. The most common pathogenic mtDNK point mutations associated with LHON are 3460 G→A, 11778 G→A and 14484 T→C. These mutations are linked with the defects of subunits of complex I (NADH-dehydrogenase-ubiquinone reductase) in mitochondria. The 11778 G→A point mutation has the worst optic outcome (blindness). - - - - - Methods: Complete ophthalmologic examination including best corrected visual acuity on the both eyes according to Snellen chart, ophthalmoscopy, Goldmann perimetry and colour vision with Ishichara plates were done. mtDNA point mutation 11778 G→A was detected in DNA of peripheral blood lymphocytes using PCR and RFLP method. - - - - - Results: This is the first study of Croatian patients with LHON defect associated with mtDNK mutations. Two LHON 11778 G→A families are presented in this paper. The mothers and female relatives are LHON mutants without symtoms, while the sons mutants suffered from blindness. - - - - - Conclusions: Molecular diagnosis may help in explanation of the cause of LHON disease. LHON should not be based solely on clinical description.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionAccepted version
Journal titleCollegium Antropologicum
Numberingvol. 30, no. 1, pp. 171-174
p-ISSN0350-6134
URN:NBNurn:nbn:hr:105:409054
Publication2006-03
Document URLhttps://hrcak.srce.hr/8908
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-27 19:54:43