© 1994 Oxford University Press
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Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
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, H
pital Saint-Vincent-de-Paul 75014 Paris
6Service d'Anatomie Pathologique et de Neuropathologie, H
pital d'Adultes de la Timone 13005 Marseille
7Pédiatrie- Réanimation Infantile, H
pital 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;
= 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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