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Neurological Sciences
Published in: Neurological Sciences 12/2014

01-12-2014 | Letter to the Editor

A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot–Marie–Tooth disease

Authors: Marco Luigetti, Gian Maria Fabrizi, Federica Taioli, Alessandra Del Grande, Mauro Lo Monaco

Published in: Neurological Sciences | Issue 12/2014

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Excerpt

Dear Editor, …
Appendix
Available only for authorised users
Literature
1.
Murphy SM, Laura M, Fawcett K et al (2012) Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry 83:706–710PubMedCentralPubMedCrossRef
2.
Latour P, Gonnaud PM, Ollagnon E et al (2006) SIMPLE mutation analysis in dominant demyelinating Charcot–Marie–Tooth disease: three novel mutations. J Peripher Nerv Syst 11:148–155PubMedCrossRef
3.
Gerding WM, Koetting J, Epplen JT, Neusch C (2009) Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF. Neuromuscul Disord 19:701–703PubMedCrossRef
4.
Verhoeven K, De Jonghe P, Van de Putte T et al (2003) Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10. Am J Hum Genet 73:926–932PubMedCentralPubMedCrossRef
5.
Michell AW, Laura M, Blake J et al (2009) GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment. J Neurol Neurosurg Psychiatry 80:699–700PubMedCrossRef
Metadata
Title
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot–Marie–Tooth disease
Authors
Marco Luigetti
Gian Maria Fabrizi
Federica Taioli
Alessandra Del Grande
Mauro Lo Monaco
Publication date
01-12-2014
Publisher
Springer Milan
Published in
Neurological Sciences / Issue 12/2014
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-014-1833-2

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