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https://open.uns.ac.rs/handle/123456789/8138
Title: | Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: Case study | Authors: | Vesna Stojanović Johannes A Mayr Wolfgang Sperl Nenad Barišić Aleksandra Doronjski Gordana Milak |
Keywords: | Mitochondrial DNA depletion syndromes | Issue Date: | 1-Dec-2013 | Journal: | Croatian Medical Journal | Abstract: | 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. | URI: | https://open.uns.ac.rs/handle/123456789/8138 | ISSN: | 3539504 | DOI: | 10.3325/cmj.2013.54.579 |
Appears in Collections: | MDF Publikacije/Publications |
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