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

Internet

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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