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2012 | 59 | 3 | 413-415
Article title

A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2

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EN
Abstracts
EN
Hereditary sensory and autonomic neuropathy type 2 is a rare disorder caused by recessive mutations in the WNK1/HSN2 gene located on chromosome 12p13.33. Phenotype of the patients is characterized by severe sensory loss affecting all sensory modalities. We report a novel homozygous Lys179fsX182 (HSN2); Lys965fsX968 (WNK1/HSN2) mutation causing an early childhood onset hereditary sensory and autonomic neuropathy type 2, with acromutilations in upper and lower limbs, and autonomic dysfunction. To the best of our knowledge this is the first genetically proven case of hereditary sensory and autonomic neuropathy type 2 originating from East Europe.
Publisher

Year
Volume
59
Issue
3
Pages
413-415
Physical description
Dates
published
2012
received
2012-05-30
revised
2012-07-23
accepted
2012-08-13
(unknown)
2012-08-21
Contributors
  • Department of Neurology, Medical University of Warsaw, Warszawa, Poland
  • Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
  • Department of Neurology, Medical University of Warsaw, Warszawa, Poland
  • Department of Neurology, Medical University of Warsaw, Warszawa, Poland
  • Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
References
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Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.bwnjournal-article-abpv59p413kz
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