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Neurology 2001;57:1319-1322
© 2001 American Academy of Neurology
Brief Communications

Congenital muscular dystrophy with primary partial laminin {alpha}2 chain deficiency: Molecular study

Y. He, MD PhD;, K. J. Jones, MBBS, N. Vignier, G. Morgan, MBBS, M. Chevallay, MSc, A. Barois, MD, B. Estournet–Mathiaud, MD, H. Hori, PhD, T. Mizuta, MD, F. M.S. Tomé, MD PhD;, K. N. North, MD and P. Guicheney, PhD

From INSERM U523, Institut de Myologie, and IFR 14 "Coeur, Muscle et Vaisseaux" (Drs. He, Tomé, Guicheney, N. Vignier, and M. Chevalley), Groupe Hospitalier Pitié-Salpêtrière, Paris; Service de Pédiatrie-Réanimation Infantile (Drs. Barois, and Estournet–Mathiaud), Hôpital Raymond-Poincaré, Garches, France; Institute for Neuromuscular Research (Drs. Jones and North), The Children’s Hospital at Westmead, Sydney; Department of Paediatrics and Child Health (Drs. Jones and North), University of Sydney; Sydney Children’s Hospital (Dr. Morgan), Randwick, Australia; Medical Research Institute (Dr. Hori), Medical and Dental University, Tokyo; and Department of Internal Medicine (Dr. Mizuta), Saga Medical School, Nabeshima, Japan.

Address correspondence and reprint requests to Dr. Kathryn North, Institute for Neuromuscular Research, The Children’s Hospital at Westmead, Locked Bag 4001, Westmead, 2145, Sydney, NSW, Australia; e-mail: kathryn{at}chw.edu.au

The authors report a case of congenital muscular dystrophy with mild nonprogressive muscle weakness, white matter hypodensity, and absence of the laminin {alpha}2 chain in muscle fibers with two antibodies, but not with four others. They identified mutations in LAMA2, which explain the partial laminin {alpha}2 deficiency. Analysis of this case and two others allows us to refine the epitopes of two of the commercial antibodies, and illustrate the importance of using antibodies directed against different domains of the protein.




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