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Neurology 2003;61:404-406
© 2003 American Academy of Neurology
Brief Communications

A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2

L. Palenzuela, PhD, A.L. Andreu, MD PhD, J. Gàmez, MD PhD, M.R. Vilà, PhD, T. Kunimatsu, PhD, A. Meseguer, PhD, C. Cervera, MD PhD, I. Fernandez Cadenas, MSc, P.F.M. van der Ven, PhD, T.G. Nygaard, MD, E. Bonilla, MD and M. Hirano, MD

From the Centre d’Investigacions en Bioquímica i Biologia Molecular (CIBBIM) (Drs. Palenzuela, Andreu, and Meseguer, I. Fernandez Cadenas), Hospital Universitari Vall d’Hebron, Barcelona, Spain; Servei de Neurologia (Drs. Gàmez and Cervera), Hospital Universitari Vall d’Hebron, Barcelona, Spain; Department of Neurology (Drs. Vilà, Kunimatsu, Bonilla, and Hirano), Columbia University College of Physicians and Surgeons, New York, NY; Department of Cell Biology (Dr. van der Ven), University of Potsdam, Germany; and Department of Neurology (Dr. Nygaard), University of Medicine and Dentistry New Jersey Medical School, Newark, NJ.

Address correspondence and reprint requests to Dr. Michio Hirano, Associate Professor of Neurology, Columbia-Presbyterian Medical Center, 630 West 168th Street, P&S 4-443, New York, NY 10032; e-mail: mh29{at}columbia.edu

In 2001, the authors described the clinical features of a genetically distinct autosomal dominant limb-girdle muscular dystrophy (LGMD; LGMD 1F). Using a genome-wide screen with more than 400 microsatellite markers, the authors identified a novel LGMD disease locus at chromosome 7q32.1-32.2. Within this chromosomal region, filamin C, a gene encoding actin binding protein highly expressed in muscle, was an obvious candidate gene; however, the authors did not detect any defects in filamin C or its protein product.




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