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© 1994 Oxford University Press

OTHER

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

Dominique Hillaire1, Anne Leclerc2, Sabine Fauré1, Haluk Topaloglu3, Nuchanard Chiannllkulchaï1, Pascale Guicheney2, Laurent Grinas1, Patricia Legos1, Joanne Philpot4, Teresinha Evangelista2, Marie-Claude Routon5, Michèle Mayer5, Jean-Francols Pellissier6, Brigitte Estournet7, Annie Barols7, Fayçal Hentati8, Nicole Feingold9, Jacqui S.Beckmann1,10, Victor Dubowitz4, Fernando M.S.Tomé2 and Michel Fardeau2,*

1Généthon, 1 rue de I'Internationale 91002 Evry 2INSERM U153 and CNRS ERS 064, 17 rue du Fer-à-Moulin 75005 Paris, France 3Department of Paediatric Neurology, Hacettepe Children's Hospital 06100 Ankara, Turkey 4Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital London W12 ONN, UK 5Service de Neuropédiatrie, Hupital Saint-Vincent-de-Paul 75014 Paris 6Service d'Anatomie Pathologique et de Neuropathologie, Hupital d'Adultes de la Timone 13005 Marseille 7Pédiatrie- Réanimation Infantile, Hupital Raymond Poincaré Garches, France 8Institut National de Neurologie, La Rabta Tunis, Tunisia 9INSERM U155, Chåteau de Longchamp Bois de Boulogne, 75016 Paris 10CEPH, 27 rue Juliette Dodu 75010 Paris, France

*To Whom correspondences should be addressed

Received June 7, 1994; Revised June 29, 1994; Accepted June 29, 1994

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.


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