Publications

Authors:

Fabrizi, G. M.; Cavallaro, T.; Angiari, C.; Bertolasi, L.; Cabrini, I.; Ferrarini, M.; Rizzuto, N.

Title:

Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E

Year:

2004

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Format:

A Stampa

Referee:

Sì

Name of journal:

NEUROLOGY

ISSN of journal:

0028-3878

N° Volume:

62

Number or Folder:

8

Page numbers:

1429-1431

Keyword:

CMT2; giant axons; neurofilament-light gene; NF-L

Short description of contents:

The axonal type 2 Charcot-Marie-Tooth disease (CMT2) is phenotypically poorly characterized. Here the authors report a family with a Pro22Ser mutation in the neurofilament-light gene (NF-L; CMT2E) manifesting electrophysiologically as the demyelinating type 1 CMT (CMT1) and pathologically as an axonopathy with giant axons and accumulation of disorganized NF. NF-L should be investigated in CMT2 as well as in CMT1 not associated with the usual genes PMP22, Cx32, and P0.

Product ID:

38537

Handle IRIS:

11562/305431

Deposited On:

August 7, 2007

Last Modified:

November 28, 2022

Bibliographic citation:

Fabrizi, G. M.; Cavallaro, T.; Angiari, C.; Bertolasi, L.; Cabrini, I.; Ferrarini, M.; Rizzuto, N., Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E «NEUROLOGY» , vol. 62 , n. 8 , 2004 , pp. 1429-1431

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