@article{b6b08ef86efa40f7ad1fc048c1d62c75,
title = "Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants",
author = "Claudia Castiglioni and Fabiana Fattori and Bjarne Udd and {de los Angeles Avaria}, Maria and Bernardita Suarez and Adele D'Amico and Alessandro Malandrini and Rosalba Carrozzo and Daniela Verrigni and Enrico Bertini and Giorgio Tasca",
year = "2018",
doi = "10.1038/s41431-017-0003-4",
language = "English",
volume = "26",
pages = "367--373",
journal = "EUROPEAN JOURNAL OF HUMAN GENETICS",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "3",
}