POLG mutations presenting as CMT

We report on two patients, with different POLG mutations, in whom axonal neuropathy dominated the clinical picture. One patient presented with late onset sensory axonal neuropathy caused by a homozygous c.2243G>C (p.Trp748Ser) mutation that resulted from uniparental disomy of the long arm of chro...

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Dades bibliogràfiques
Publicat a:J Peripher Nerv Syst
Autors principals: Phillips, Jade, Courel, Steve, Rebelo, Adriana P., Bis-Brewer, Dana M., Bardakjian, Tanya, Dankwa, Lois, Hamedani, Ali G., Züchner, Stephan, Scherer, Steven S.
Format: Artigo
Idioma:Inglês
Publicat: 2019
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8287532/
https://ncbi.nlm.nih.gov/pubmed/30843307
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jns.12313
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