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Titolo:
Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutationin the myelin protein zero gene
Autore:
Chapon, F; Latour, P; Diraison, P; Schaeffer, S; Vandenberghe, A;
Indirizzi:
Hopcentiquaille, Hospices Civils Lyon, Unite Neurogenet, F-69005 Lyon, Fran Hop Antiquaille Lyon France F-69005 Unite Neurogenet, F-69005 Lyon, Fran CHU Caen, Serv Neurol, F-14033 Caen, France CHU Caen Caen France F-14033CHU Caen, Serv Neurol, F-14033 Caen, France CHU Caen, Neuropathol Lab, F-14033 Caen, France CHU Caen Caen France F-14033 Caen, Neuropathol Lab, F-14033 Caen, France
Titolo Testata:
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
fascicolo: 6, volume: 66, anno: 1999,
pagine: 779 - 782
SICI:
0022-3050(199906)66:6<779:APOCDA>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEUROPATHY;
Keywords:
Charcot-Marie-Tooth; myelin protein zero; axonal neuropathy; Argyll-Robertson syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Chapon, F CHRU Caen, Neuropathol Lab, Ave Cote Nacre, F-14033 Lyon, FranceCHRU Caen Ave Cote Nacre Lyon France F-14033 14033 Lyon, France
Citazione:
F. Chapon et al., "Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutationin the myelin protein zero gene", J NE NE PSY, 66(6), 1999, pp. 779-782

Abstract

A French family had Charcot-Marie-Tooth disease type 2 (CMT2) which was characterised by late onset of peripheral neuropathy involvement, Argyll Robertson-like pupils, dysphagia, and deafness. Electrophysiological studies and nerve biopsy defined the neuropathy as axonal type. Genetic analysis of myelin protein zero (MPZ) found a mutation in codon 124 resulting in substitution of threonine by methionine. One of the patients, presently 30 years old, showed only Argyll Robertson-like pupils as an objective sign but no clinical or electrophysiological signs of peripheral neuropathy.

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Documento generato il 29/11/20 alle ore 03:02:03