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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Peripher Nerv Syst
Main Authors: Phillips, Jade, Courel, Steve, Rebelo, Adriana P., Bis-Brewer, Dana M., Bardakjian, Tanya, Dankwa, Lois, Hamedani, Ali G., Züchner, Stephan, Scherer, Steven S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados