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Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
Neurol 45:2018-2023, Gouider,R.,et al, 1995
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Article Abstract
Hereditary neuropathy with liability to pressure palsies(NHPP)is an autosomal dominant disease characterized by recurrent episodes of acute nerve palsies.We performed a clinical,electrophysiologic and molecular study of 13 French families with HNPP associated with a chromosome 17p11.2 deletion in 36 individuals.There were electrophysiologic abnormalities in all symptomatic(n=28)and asymptomatic(n=8)deletion carriers,even in childhood.Bilateral delayed distal motor latency of the median nerve at the wrist,reduced sensory velocity in the palm-wrist segment,and delayed distal motor latency or reduced motor velocity in the peroneal nerve was diagnostic in at-risk relatives.This large series confirms the reliability of molecular analysis combined with a simplified electrophysiologic examination for the diagnosis of HNPP associated with 17p11.2 deletion.
 
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chromosomal abnormality
chromosome 17
compression neuropathy
compression neuropathy,recurrent
familial
genetic neurologic disorders
molecular genetics
nerve conduction studies
neurologic disease,diagnoses of
neuropathy,hereditary peripheral
tomaculous neuropathy

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