Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

We identified three non-related patients manifesting a childhood-onset progressive neuromyopathy with congenital cataracts, delayed walking, distal weakness and wasting, glaucoma and swallowing difficulties. Electrophysiology and nerve biopsies showed a mixed axonal and demyelinating neuropathy, whi...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Castiglioni, Claudia, Fattori, Fabiana, Udd, Bjarne, de los Angeles Avaria, Maria, Suarez, Bernardita, D’Amico, Adele, Malandrini, Alessandro, Carrozzo, Rosalba, Verrigni, Daniela, Bertini, Enrico, Tasca, Giorgio
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5839054/
https://ncbi.nlm.nih.gov/pubmed/29358615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0003-4
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados