Abstract:
:We report two patients with suspected hereditary liability to pressure palsies. Neurophysiological studies showed a mixed axonal-demyelinating sensory-motor polyneuropathy with focal slowing of conduction velocities at the common sites of entrapment. Morphological studies on sural nerve biopsy from the proband showed active axonal regeneration without typical tomacula. Molecular analysis confirmed the presence of a deletion of chromosome 17p11.2 in both patients. Our observation confirms the heterogeneity of hereditary liability to pressure palsies and the relevance of DNA testing for the diagnosis of this hereditary neuropathy.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Sessa M,Nemni R,Quattrini A,Del Carro U,Wrabetz L,Canal Ndoi
10.1136/jmg.34.11.889subject
Has Abstractpub_date
1997-11-01 00:00:00pages
889-92issue
11eissn
0022-2593issn
1468-6244journal_volume
34pub_type
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更新日期:1997-12-01 00:00:00
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更新日期:1986-08-01 00:00:00
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更新日期:1993-06-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 信件
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更新日期:2017-04-01 00:00:00
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更新日期:1999-06-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:2009-05-01 00:00:00