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Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis

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Abstract

Renal biopsy of two children and a maternal relative, diagnosed with severe progressive tubulointerstitial nephritis, has shown the presence of distorted mitochondria. Mitochondrial DNA from the blood of these patients was analysed. No major deletions were found, but an A to G mutation was detected in position 5656. It is proposed that this mutation might play a causative role in the renal disease of the patients.

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Authors and Affiliations

  1. Institute of Biochemistry of the Biological Research Center, Temesvári krt. 62, H-6726 Szeged, Hungary Tel.: +36-62-433388; Fax: +36-62-433188 e-mail: venetianer@everx.szbk.u-szeged.hu, , , , , , HU

    Gábor Zsurka & P. Venetianer

  2. Department of Pathology, Albert Szent-Györgyi Medical University, Szeged, Hungary, , , , , , HU

    Jenö Ormos & Béla Iványi

  3. Department of Pediatrics, Albert Szent-Györgyi Medical University, Szeged, Hungary, , , , , , HU

    Sándor Túri & Emöke Endreffy

  4. Department of Internal Medicine, Albert Szent-Györgyi Medical University, Szeged, Hungary, , , , , , HU

    Sándor Sonkodi

  5. Municipal Department, Szeged, Hungary, , , , , , HU

    Márta Magyari

Authors
  1. Gábor Zsurka
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  2. Jenö Ormos
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  3. Béla Iványi
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  4. Sándor Túri
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  5. Emöke Endreffy
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  6. Márta Magyari
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  7. Sándor Sonkodi
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  8. P. Venetianer
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Additional information

Received: 25 July 1996 / Revised: 15 October 1996

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Zsurka, G., Ormos, J., Iványi, B. et al. Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis. Hum Genet 99, 484–487 (1997). https://doi.org/10.1007/s004390050393

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  • DOI: https://doi.org/10.1007/s004390050393

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