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PMID: 8937360 Published · ppublish English Case Reports Letter Research Support, Non-U.S. Gov't

Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.

Journal of neurology, neurosurgery, and psychiatry ·Vol. 61 ·No. 5 ·1996-11-00 ·Pages 535-6

Chapon F, Diraison P, Lechevalier B, Chazot G, Viader F, Bonnebouche C, Vandenberghe A, Timmerman V, Van Broeckhoven C, Vandenberghe A

Abstract

暂无摘要

MeSH Terms

Adult Alleles Charcot-Marie-Tooth Disease/genetics DNA Probes Female Gene Deletion Hereditary Sensory and Motor Neuropathy/genetics Humans Male

Chemicals

DNA Probes

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Chapon F

Diraison P

Lechevalier B

Chazot G

Viader F

Bonnebouche C

Vandenberghe A

Timmerman V

Van Broeckhoven C

Vandenberghe A

References (5)

5 references, click to expand

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies.
Hum Genet. 1994 Feb;93(2):151-6 PMID: 8112739
Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.
Acta Neuropathol. 1994;87(1):91-7 PMID: 7511317
Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).
Hum Genet. 1996 Jan;97(1):26-34 PMID: 8557256
A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies.
Nat Genet. 1994 Mar;6(3):263-6 PMID: 8012388
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
Hum Mol Genet. 1994 Feb;3(2):223-8 PMID: 8004087

Article Info

Journal

Journal of neurology, neurosurgery, and psychiatry

Abbr.

J Neurol Neurosurg Psychiatry

ISSN

0022-3050

DOI

10.1136/jnnp.61.5.535

Published

1996-11-00

Pages

535-6

Language

English

Region

England

NLM ID

2985191R

PMCID

PMC1074063

Subset

External Links

PubMed source DOI: 10.1136/jnnp.61.5.535 PMC Full Text View journal details

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Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.

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