Related Experiment Videos
Disordered peripheral nerve conduction in DOOR(S) syndrome
1Department of Clinical Genetics, Hospital for Sick Children, London, UK.
Neuropediatrics
|February 1, 1994
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.