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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
Human Molecular Genetics, Volume 3, No. 9, Year 1994
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Description
Congenital muscular dystrophies (CMD) are autosomal recessive, heterogeneous disorders. The commonest forms are the Fukuyama CMD (FCMD), associated with mental retardation and structural brain anomalies, and classical (occidental) CMD, with pure muscle expression. FCMD has been localized to chromosome 9q31 - q33. Following the discovery of merosin deficiency in some CMD cases, we have localized, by homozygosity mapping and linkage analysis (Zmax = 5.6; θ = 0.0 for marker AFM127×b2) in four merosin-negative families a CMD gene in a 16 cM region of chromosome 6q2 in the region of the laminin M chain gene. In three consanguineous, merosin-positive, CMD families there was no linkage to either chromosome 6q2 or 9q31 - q33. © 1994 Oxford University Press.
Authors & Co-Authors
Hillaire, Dominique
France, Evry
Généthon
Leclerc, Anne
France, Paris
Cnrs Centre National de la Recherche Scientifique
Fauré, Sabine
France, Evry
Généthon
Topaloglu, Haluk A.
Turkey, Ankara
Hacettepe Üniversitesi
Chiannllkulchaï, Nuchanard
France, Evry
Généthon
Guicheney, Pascale
France, Paris
Cnrs Centre National de la Recherche Scientifique
Grinas, Laurent
France, Evry
Généthon
Legos, Patricia
France, Evry
Généthon
Philpot, Joanne
United Kingdom, London
Hammersmith Hospital
Evangelista, Teresinha D.
France, Paris
Cnrs Centre National de la Recherche Scientifique
Routon, Marie Claude
France, Paris
Hopital Saint-vincent-de-paul
Mayer, Michèle
France, Paris
Hopital Saint-vincent-de-paul
Péllissier, Jean François
France, Marseille
Hopital la Timone
Estournet-Mathiaud, Brigitte
France, Garches
Service de Pédiatrie-réanimation Infantile
Barols, Annie
France, Garches
Service de Pédiatrie-réanimation Infantile
Hentati, F. F.
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Feingold, Nicole
France, Paris
Inserm
Beckmann, Jacques S.
France, Evry
Généthon
France, Paris
Fondation Jean Dausset - Ceph
Dubowitz, Victor
United Kingdom, London
Hammersmith Hospital
M.S.Tomé, Fernando
France, Paris
Cnrs Centre National de la Recherche Scientifique
Fardeau, Michael
France, Paris
Cnrs Centre National de la Recherche Scientifique
Statistics
Citations: 194
Authors: 21
Affiliations: 10
Identifiers
Doi:
10.1093/hmg/3.9.1657
ISSN:
09646906
Research Areas
Disability
Genetics And Genomics