Document Detail

Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies.
MedLine Citation:
PMID:  8210227     Owner:  NLM     Status:  MEDLINE    
Hereditary neuropathy with liability to pressure palsies (NHPP) is an autosomal dominant disease of peripheral nerves, characterized by recurrent focal neuropathies often with an underlying asymptomatic polyneuropathy. We report the clinical, electrophysiological, and histopathological findings in three families with HNPP and confirm the presence of a deletion on chromosome 17p11.2, including all the markers known to be duplicated in Charcot-Marie-Tooth disease type 1A. This deletion appears to be the underlying molecular deficit in this disease and provides additional evidence for the importance of this locus for peripheral nerve function.
D Verhalle; A Löfgren; E Nelis; I Dehaene; P Theys; M Lammens; R Dom; C Van Broeckhoven; W Robberecht
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Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article    
Journal Detail:
Title:  Annals of neurology     Volume:  35     ISSN:  0364-5134     ISO Abbreviation:  Ann. Neurol.     Publication Date:  1994 Jun 
Date Detail:
Created Date:  1994-07-08     Completed Date:  1994-07-08     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7707449     Medline TA:  Ann Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  704-8     Citation Subset:  IM    
Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium.
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MeSH Terms
Charcot-Marie-Tooth Disease / genetics*
Chromosome Deletion*
Chromosomes, Human, Pair 17*
DNA / analysis
Electrophysiology / methods
Genetic Markers
Hereditary Sensory and Motor Neuropathy / genetics*,  pathology,  physiopathology
Motor Neurons / physiology
Neural Conduction
Peroneal Nerve / pathology,  physiopathology,  ultrastructure
Sural Nerve / pathology,  ultrastructure
Ulnar Nerve / physiopathology
Reg. No./Substance:
0/Genetic Markers; 9007-49-2/DNA

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