title: Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study.
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.
authors.forename: Vesna
authors.initials: V
authors.lastname: Stojanovic
authors.forename: Johannes A
authors.initials: JA
authors.lastname: Mayr
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Sperl
authors.affiliation: Nenad Barisic, University of Novi Sad, Faculty of Medicine, Institute for Child and Youth Health Care of Vojvodina, Hajduk Veljkova 10, 21000 Novi Sad, Serbia, barisicnenadns@gmail.com.
authors.forename: Nenad
authors.initials: N
authors.lastname: Barišić
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Doronjski
authors.forename: Gordana
authors.initials: G
authors.lastname: Milak
mesh_terms: D000140:Acidosis, Lactic / Q000235:genetics*; D000595:Amino Acid Sequence; D018797:Cell Cycle Proteins / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D006801:Humans; D007223:Infant; D007687:Kidney Tubules, Proximal / Q000002:abnormalities*; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics*; D008969:Molecular Sequence Data; D009135:Muscular Diseases / Q000235:genetics*; D009154:Mutation; D009397:Nephrocalcinosis / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D012264:Ribonucleotide Reductases / Q000235:genetics*; D013577:Syndrome
chemical_list: D018797:Cell Cycle Proteins; D004272:DNA, Mitochondrial; C405947:RRM2B protein, human; D012264:Ribonucleotide Reductases