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Journal of Neurology
Published in: Journal of Neurology 7/2016

01-07-2016 | Letter to the Editors

Evolving neuromuscular phenotype in a patient with a heterozygous CHCHD10 p.G66V mutation

Authors: Manu E. Jokela, Juho Joutsa, Bjarne Udd

Published in: Journal of Neurology | Issue 7/2016

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Excerpt

Dear Sirs, …
Literature
1.
Penttilä S, Jokela M, Bouquin H, Saukkonen AM, Toivanen J, Udd B (2015) Late-onset spinal motor neuronopathy is caused by mutation in CHCHD10. Ann Neurol 77:163–172CrossRefPubMed
2.
Auranen M, Ylikallio E, Scherbii M et al (2015) CHCHD10 variant p.(Gly66Val) causes axonal Charcot–Marie–Tooth disease. Neurol Genet 1:1–5CrossRef
3.
4.
Müller K, Andersen PM, Hübers A et al (2014) Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. Brain 137:e309CrossRefPubMed
Metadata
Title
Evolving neuromuscular phenotype in a patient with a heterozygous CHCHD10 p.G66V mutation
Authors
Manu E. Jokela
Juho Joutsa
Bjarne Udd
Publication date
01-07-2016
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 7/2016
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-016-8134-z

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