van de Glind, Gretha, de Vries, Maaike, Rodenburg, Richard et al. · European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2007 · DOI
This study describes children in a family who carried a specific genetic mutation in their mitochondria (the energy-producing parts of cells) and presented with muscle pain as their first symptom. The researchers found that muscle pain combined with fatigue in children can sometimes be mistakenly labeled as fibromyalgia or chronic fatigue syndrome, when the real cause is actually a rare inherited mitochondrial disorder called MERRF syndrome.
This study is important because it demonstrates that some cases of pediatric fatigue and muscle pain labeled as ME/CFS or fibromyalgia may actually be due to underlying genetic mitochondrial disorders. Understanding this distinction could improve diagnostic accuracy and enable appropriate genetic testing and family screening for affected individuals.
This study does not prove that all ME/CFS cases are caused by MTTK mutations, nor does it establish the prevalence of mitochondrial mutations in ME/CFS populations. Being a case report from a single family, it cannot establish causation or generalizability to broader ME/CFS cohorts.
About the PEM badge: “PEM required” means post-exertional malaise was an explicit required diagnostic criterion for participant inclusion in this study — not that PEM was studied, observed, or discussed. Studies using criteria that do not require PEM (e.g. Fukuda, Oxford) are tagged “PEM not required”. How the atlas works →
The first block is for the primary paper and is the citation you should use in research work. The atlas-snapshot line only applies if you are specifically referring to this atlas’s reading of the paper on the date shown.
Primary citation
van de Glind, Gretha, de Vries, Maaike, Rodenburg, Richard, Hol, Frans, Smeitink, Jan, & Morava, Eva (2007). Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation.. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. https://doi.org/10.1016/j.ejpn.2007.01.004
BibTeX
@article{mecfsatlas-van-de-glind-2007-resting-muscle,
author = {van de Glind, Gretha and de Vries, Maaike and Rodenburg, Richard and Hol, Frans and Smeitink, Jan and Morava, Eva},
title = {Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation.},
journal = {European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society},
year = {2007},
doi = {10.1016/j.ejpn.2007.01.004},
note = {PubMed: 17293137},
url = {https://www.mecfsatlas.com/evidence/van-de-glind-2007-resting-muscle},
}Atlas snapshot reference
ME/CFS Atlas. Generator v1 / Scanner v1.4 / policy v0.1. Accessed 2026-05-30. https://www.mecfsatlas.com/evidence/van-de-glind-2007-resting-muscle
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