Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom-Reference-Cited by-同舟云学术

Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom

Published:2014-10-24 Issue:1 Volume:16 Page:43-54
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Laššuthová P.,Brožková D. Šafka,Krůtová M.,Neupauerová J.,Haberlová J.,Mazanec R.,Dvořáčková N.,Goldenberg Z.,Seeman P.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-014-0427-8.pdf

Reference9 articles.

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2. Zhao H, Race V, Matthijs G, De Jonghe P, Robberecht W, Lambrechts D, Van Damme P (2014) Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. Eur J Hum Genet 22(6):847–850. doi: 10.1038/ejhg.2013.231

3. Rossor AM, Kalmar B, Greensmith L, Reilly MM (2012) The distal hereditary motor neuropathies. J Neurol Neurosurg Psychiatry 83(1):6–14. doi: 10.1136/jnnp-2011-300952

4. Aminkeng F (2013) HINT1 mutations define a novel disease entity—autosomal recessive axonal neuropathy with neuromyotonia. Clin Genet 83(1):31–32. doi: 10.1111/cge.12030

5. Zimon M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloglu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Muller T, Fransen E, Van Damme P, Loscher WN, Barisic N, Mitrovic Z, Previtali SC, Topaloglu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Zuchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A (2012) Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet 44(10):1080–1083. doi: 10.1038/ng.2406

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