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Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

1994; Oxford University Press; Volume: 3; Issue: 9 Linguagem: Inglês

10.1093/hmg/3.9.1657

1460-2083

Dominique Hillaire, A. Leclerc, Sabine Fauré, Haluk Topaloğlu, Nuchanard Chiannllkulchaï, Pascale Guicheney, Laurent Grinas, Patricia Legos, Joanne Philpot, Teresinha Evangelista, Marie-Claude Routon, M. Mayer, Jean-Francols Pellissier, B. Estournet, Annie Barols, Fayçal Hentati, N Feingold, J. Beckmann, Victor Dubowitz, F.M.S. Tomé, Michel Fardeau,

RNA modifications and cancer

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; theta = 0.0 for marker AFM127xb2) 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.