Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene

Mitochondrial DNA depletion syndromes are a group of autosomal recessive hereditary disorders characterized by reduction of the amount of mitochondrial DNA in the affected tissue (muscle, liver, brain, or kidneys). We report a case of an infant with myopathy, deafness, peripheral neuropathy, nephroc...

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Detalles Bibliográficos
Autores principales: Stojanović, Vesna, Mayr, Johannes A., Sperl, Wolfgang, Barišić, Nenad, Doronjski, Aleksandra, Milak, Gordana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Croatian Medical Schools 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893987/
https://www.ncbi.nlm.nih.gov/pubmed/24382854
http://dx.doi.org/10.3325/cmj.2013.54.579
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author Stojanović, Vesna
Mayr, Johannes A.
Sperl, Wolfgang
Barišić, Nenad
Doronjski, Aleksandra
Milak, Gordana
author_facet Stojanović, Vesna
Mayr, Johannes A.
Sperl, Wolfgang
Barišić, Nenad
Doronjski, Aleksandra
Milak, Gordana
author_sort Stojanović, Vesna
collection PubMed
description Mitochondrial DNA depletion syndromes are a group of autosomal recessive hereditary disorders characterized by reduction of the amount of mitochondrial DNA in the affected tissue (muscle, liver, brain, or kidneys). We report a case of an infant with myopathy, deafness, peripheral neuropathy, nephrocalcinosis, proximal renal tubulopathy, moderate lactic acidosis, and a novel mutation of the RRM2B gene.
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spelling pubmed-38939872014-02-05 Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene Stojanović, Vesna Mayr, Johannes A. Sperl, Wolfgang Barišić, Nenad Doronjski, Aleksandra Milak, Gordana Croat Med J Case Report Mitochondrial DNA depletion syndromes are a group of autosomal recessive hereditary disorders characterized by reduction of the amount of mitochondrial DNA in the affected tissue (muscle, liver, brain, or kidneys). We report a case of an infant with myopathy, deafness, peripheral neuropathy, nephrocalcinosis, proximal renal tubulopathy, moderate lactic acidosis, and a novel mutation of the RRM2B gene. Croatian Medical Schools 2013-12 /pmc/articles/PMC3893987/ /pubmed/24382854 http://dx.doi.org/10.3325/cmj.2013.54.579 Text en Copyright © 2013 by the Croatian Medical Journal. All rights reserved. http://creativecommons.org/licenses/by/2.5/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Stojanović, Vesna
Mayr, Johannes A.
Sperl, Wolfgang
Barišić, Nenad
Doronjski, Aleksandra
Milak, Gordana
Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene
title Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene
title_full Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene
title_fullStr Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene
title_full_unstemmed Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene
title_short Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene
title_sort infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the rrm2b gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893987/
https://www.ncbi.nlm.nih.gov/pubmed/24382854
http://dx.doi.org/10.3325/cmj.2013.54.579
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