Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.

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Abstract

Charcot-Marie-Tooth (CMT) disease, the most frequent form of inherited neuropathy, is a genetically heterogeneous group of disorders of the peripheral nervous system, but with a quite homogeneous clinical phenotype (progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss and usually decreased tendon reflexes). Our aim was to review the various CMT subtypes identified at the present time.

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Journal

Journal ID (iso-abbrev): J. Med. Genet.

Title: Journal of medical genetics

Publisher: BMJ

ISSN (Electronic): 1468-6244

ISSN (Print): 0022-2593

Publication date (Electronic): Oct 2015

Volume: 52

Issue: 10

Affiliations

[1 ] Department of Neurology, University Hospital, Poitiers, France Department of Neurology (National Reference Center "Neuropathies Périphériques Rares"), University Hospital Dupuytren, Limoges, France.

[2 ] Department of Medical Genetics, University Hospital (CHU Pellegrin), Bordeaux, France.

[3 ] Department of Neurology, University Hospital Mustapha Bacha, Algiers, Algeria.

[4 ] Department of Genetics, University Hospital, Limoges, France.

[5 ] Department of Neurology (National Reference Center "Neuropathies Périphériques Rares"), University Hospital Dupuytren, Limoges, France.

Article

Publisher Item ID: jmedgenet-2015-103272

DOI: 10.1136/jmedgenet-2015-103272

PubMed ID: 26246519

SO-VID: 6b82faa9-952f-44be-9ccc-1ff2990b1124

History

Keywords: Neurology,Neuromuscular disease,Peripheral nerve disease

Data availability:

Keywords: Neurology, Neuromuscular disease, Peripheral nerve disease

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