Izvorni znanstveni članak
https://doi.org/10.3325/cmj.2013.54.579
Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study
Vesna Stojanović
; Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia
Johannes A. Mayr
; Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria
Wolfgang Sperl
; Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria
Nenad Barišić
orcid.org/0000-0002-6881-7856
; Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia
Aleksandra Doronjski
; Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia
Gordana Milak
; Institute for Child and Youth Health Care of Vojvodina, Novi Sad, Serbia
Sažetak
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.
Ključne riječi
Hrčak ID:
117027
URI
Datum izdavanja:
15.12.2013.
Posjeta: 787 *