@article{b792aed04fd94bf189c138a376a3dee3,
title = "A novel mitochondrial m.4414T > C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy",
keywords = "Mitochondrial disease, Chronic progressive external ophthalmoplegia, Myopathy, mtDNA variant, m.4414T>C, MTTM, MUTATION, ASSAY",
author = "Hellebrekers, {Debby M. E. I.} and Blakely, {Emma L.} and Hendrickx, {Alexandra T. M.} and Hardy, {Steven A.} and Sila Hopton and Gavin Falkous and {de Coo}, {Irenaeus F. M.} and Smeets, {Hubert J. M.} and {van der Beek}, {Nadine M. E.} and Taylor, {Robert W.}",
year = "2019",
month = sep,
doi = "10.1016/j.nmd.2019.08.005",
language = "English",
volume = "29",
pages = "693--697",
journal = "Neuromuscular Disorders",
issn = "0960-8966",
publisher = "Elsevier Science",
number = "9",
}