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Text
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<a href="http://doi.org/10.1016/j.ejpn.2007.01.004" target="_blank" rel="noreferrer">http://doi.org/10.1016/j.ejpn.2007.01.004</a>
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Title
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Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation
Publisher
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European Journal Of Paediatric Neurology
Date
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2007
Subject
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Child; Female; Humans; Adult; Mutation; adolescent; Q3 Literature Search; DNA Mutational Analysis; Pedigree; DNA; Mitochondrial/genetics; MERRF Syndrome/complications/genetics/physiopathology; Muscular Diseases/etiology/genetics/physiopathology; Pain/etiology/genetics/physiopathology; Polymerase Chain Reaction
Creator
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van de Glind G; de Vries M; Rodenburg R; Hol F; Smeitink JA; Morava E
Description
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The characteristic clinical presentation, especially the appearance of muscle symptoms, is quite unique in children carrying the mtA8344G mutation. The diagnosis of MERRF syndrome is seldom made in the pediatric age. Fatigue is a common finding in children of pubertal age. Fatigue in combination with recurrent resting muscle pain occurs frequently in the initial phase of various hereditary muscle disorders and in several autoimmune, endocrine and metabolic syndromes. In the absence of obvious biochemical/metabolic abnormalities and in the lack of neurological symptoms the complaints are frequently labelled as fibromyalgia or chronic fatigue syndrome. In patients with behavioural or psychiatric abnormalities one might even start to question the organic etiology of the complaints. We describe a family carrying the classic MTTK mutation with a variable degree of heteroplasmy, presenting in childhood as isolated recurrent muscle pain as the first symptom of the disease.
2007
Identifier
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<a href="http://doi.org/10.1016/j.ejpn.2007.01.004" target="_blank" rel="noreferrer">10.1016/j.ejpn.2007.01.004</a>
Rights
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
2007
Adolescent
Adult
Backlog
Child
de Vries M
DNA
DNA Mutational Analysis
European Journal of Paediatric Neurology
Female
Hol F
Humans
Journal Article
MERRF Syndrome/complications/genetics/physiopathology
Mitochondrial/genetics
Morava E
Muscular Diseases/etiology/genetics/physiopathology
Mutation
Pain/etiology/genetics/physiopathology
Pedigree
Polymerase Chain Reaction
Q3 Scoping Review Results
Rodenburg R
Smeitink JA
van de Glind G