Literature DB >> 1694419

Dominantly transmitted congenital indifference to pain.

P Landrieu1, G Said, C Allaire.   

Abstract

Two patients from a family with dominantly inherited indifference to pain were investigated. Perception of the other sensory modalities was normal as was the remainder of the neurological examination. Electrophysiological studies and morphometric evaluation of myelinated and unmyelinated fibers of nerve biopsy specimens were normal. This is the first morphometric study of peripheral nerve in dominantly inherited indifference to pain.

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Year:  1990        PMID: 1694419     DOI: 10.1002/ana.410270520

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  4 in total

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3.  Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

Authors:  Voraluck Phatarakijnirund; Steven Mumm; William H McAlister; Deborah V Novack; Deborah Wenkert; Karen L Clements; Michael P Whyte
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4.  An SCN9A channelopathy causes congenital inability to experience pain.

Authors:  James J Cox; Frank Reimann; Adeline K Nicholas; Gemma Thornton; Emma Roberts; Kelly Springell; Gulshan Karbani; Hussain Jafri; Jovaria Mannan; Yasmin Raashid; Lihadh Al-Gazali; Henan Hamamy; Enza Maria Valente; Shaun Gorman; Richard Williams; Duncan P McHale; John N Wood; Fiona M Gribble; C Geoffrey Woods
Journal:  Nature       Date:  2006-12-14       Impact factor: 49.962

  4 in total

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