Type 2C - A genetic entity - abstract

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(NOTE: this is only a short abstract on Type 2C in a European family. I

am not sure if we have seen this article before or not...so, please

excuse if this is a repeat ~ G)

Neuromuscular Disorders

Volume 12, Issue 4, May 2002, Pages 399-404

DOI: 10.1016/S0960-8966(01)00305-4

PII: S0960-8966(01)00305-4

Copyright © 2002 Elsevier Science B.V. All rights reserved.

Charcot¯Marie¯Tooth disease type 2C: a distinct genetic entity. Clinical

and

molecular characterization of the first European family

L. Santoro, , a, F. Manganellia, L. Di Maioa, F. Barbieria, M. Carellab,

P. D'Adamob and G. Casaric

a Department of Neurological Sciences, Servizio di Neurofisiopatologia,

University of Naples

" Federico II " , via Pansini 5, 80131 Naples, Italy

b Telethone Institute of Genetics and Medicine, Naples, Italy

c Stem Cells Research Institute (SCRI), Dibit-San Raffaele Hospital,

Milan, Italy

Received 29 June 2001; revised 4 September 2001; accepted 19 September

2001. Available online 18 October 2001.

Abstract

Charcot¯Marie¯Tooth disease type 2 is clinically and genetically

heterogeneous. A particular clinical subtype of autosomal dominant

Charcot¯Marie¯Tooth disease type 2, characterized by diaphragm and vocal

cord paralysis, is labeled Charcot¯Marie¯Tooth disease type 2C but no

genetic locus has been mapped for this form. We describe the first

European family affected by Charcot¯Marie¯Tooth disease type 2C. Genetic

analysis excluded linkage to locus of Charcot¯Marie¯Tooth disease type

2A,

B, D, E and F, and to locus of distal hereditary motor neuronopathy type

VII. In this family the disease has high penetrance, variable severity

and apparently the most severe limb muscle involvement in the youngest

generation. Vocal cord paralysis is unrelated to the degree of muscular

weakness and patients with the most severe muscle involvement have

absent or minimal respiratory symptoms. Charcot¯Marie¯Tooth disease type

2C is clinically and genetically different from Charcot¯Marie¯Tooth

disease type 2A, B, D, E and F, and is not allelic with distal

hereditary motor neuronopathy type VII.

Author Keywords: Charcot¯Marie¯Tooth disease type 2C; Vocal cord

paralysis; Diaphragm paresis

Corresponding author. Tel.: +39-81-746-3103; fax: +39-81-746-2667;

email: lusantor@...

Neuromuscular Disorders

Volume 12, Issue 4, May 2002, Pages 399-404

Software and compilation © 2002 ScienceDirect. All rights reserved.

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