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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene
Neuromuscular Disorders, Volume 13, No. 1, Year 2003
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Description
Charcot-Marie-Tooth disease constitutes a genetically heterogeneous group of hereditary motor and sensory peripheral neuropathies. The axonal type of Charcot-Marie-Tooth is designated type 2. Six loci for autosomal dominant and three for recessive Charcot-Marie-Tooth type 2 have been reported so far. In this study we report the phenotype of autosomal recessive axonal Charcot-Marie-Tooth type 2 due to a recently-described mutation (c.892C > T-p.R298C) in a gene encoding Lamin A/C nuclear envelope proteins and the first gene in which a mutation leads to autosomal recessive Charcot-Marie-Tooth type 2. We have explored eight patients from four Algerian families. The onset is usually in the second decade and the course is rapid, involving upper limbs and proximal muscles, leading to a severe condition in less than 4 years. Many different mutations in Lamin A/C have been identified as causing variable phenotypes, such as limb girdle muscular dystrophy type 1B, autosomal dominant and recessive Emery-Dreyfuss muscular dystrophy, dilated cardiomyopathy with atrioventricular conduction defect, and Dunnigan-type familial partial lipodystrophy should prompt us to fully investigate the skeletal and cardiac muscles in patients affected with autosomal recessive Charcot-Marie-Tooth type 2 carrying a mutation in LMNA. © 2002 Elsevier Science B.V. All rights reserved.
Authors & Co-Authors
Chaouch, Malika
Algeria, Algiers
Centre Hospitalo-universitaire
Allal, Y.
Algeria, Algiers
Chu Ben Aknoun
de Sandre-Giovannoli, Annachiara
France, Paris
Inserm
Vallat, Jean Michel
France, Limoges
Hopital Dupuytren
Amer-el-Khedoud, A.
Algeria, Algiers
Centre Hospitalo-universitaire
Kassouri, Nadia
Algeria, Algiers
Centre Hospitalo-universitaire
Chaouch, Athmane
Algeria, Algiers
Chu Ben Aknoun
Sindou, P.
France, Limoges
Hopital Dupuytren
Hammadouche, Tarik
Algeria, Algiers
Institut Pasteur - Alger
Tazir, Mériem
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Lévy, Nicolas
France, Paris
Inserm
France, Limoges
Hopital Dupuytren
Algeria, Algiers
Institut Pasteur - Alger
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
France, Marseille
Hopital la Timone
Grid, Djamel
France, Evry
Généthon
Statistics
Citations: 92
Authors: 12
Affiliations: 8
Identifiers
Doi:
10.1016/S0960-8966(02)00196-7
ISSN:
09608966
Research Areas
Cancer
Disability
Genetics And Genomics
Noncommunicable Diseases