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Neuropediatrics 1994; 25(1): 33-35
DOI: 10.1055/s-2008-1071578
Short communication

© Georg Thieme Verlag KG Stuttgart · New York

Disordered Peripheral Nerve Conduction in DOOR(S) Syndrome

W.  Reardon1 , S.  Boyd2 , M. C. Pitt2 , J.  Wilson3 , R. M. Winter1
  • 1Department of Clinical Genetics, Hospital for Sick Children, Great Ormond St., London WC1N 3JH, UK
  • 2Department of Neurophysiology, Hospital for Sick Children, Great Ormond St., London WC1N 3JH, UK
  • 3Department of Neurology, Hospital for Sick Children, Great Ormond St., London WC1N 3JH, UK
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Publikationsdatum:
15. Mai 2008 (online)

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Abstract

A case of DOOR(S) syndrome is detailed and the neurophysiological abnormalities observed in this patient and in other cases with this rare but recognisable autosomal recessive condition are considered. Particular emphasis is paid to the abnormal peripheral nerve conduction, which has not previously been recorded in the condition.

Key words

DOOR(S) syndrome - Peripheral nerve conduction - Electroretinogram