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Ullrich disease due to deficiency of collagen VI in the sarcolemma

From the Department of Neuromuscular Research, National Institute of Neuroscience (Drs. Ishikawa, Sugie, Noguchi, Hayashi, and Nishino), and National Center Hospital for Mental, Nervous and Muscular Disorders (Drs. Nonaka and Nishino), National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo; Department of Pediatrics (Dr. Murayama), National Rehabilitation Center for Disabled Children, Tokyo; Department of Pediatrics (Dr. Awaya), Nagoya City University Hospital, Aichi; Division of Pediatric Neurology (Dr. Suzuki), Osaka Medical Center and Research Institute for Maternal and Child Health; Division of Neurology, Department of Internal Medicine (Dr. Ishikawa), Nihon University School of Medicine, Tokyo; and Department of Neurology (Dr. Sugie), Nara Medical University, Japan.

Address correspondence and reprint requests to Dr. Ichizo Nishino, Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan; e-mail: nishino{at}ncnp.go.jp

The authors identified eight patients with Ullrich disease in whom collagen VI was present in the interstitium but was absent from the sarcolemma. By electron microscopy, collagen VI in the interstitium was never linked to the basal lamina. These findings suggest that in these patients it is not the total absence of collagen VI from the muscle but the failure of collagen VI to anchor the basal lamina to the interstitium that is the cause of Ullrich disease. Only one of the patients had a mutation in the collagen VI gene, suggesting that the primary abnormality in most of the patients involved some other molecules.

Received May 19, 2003. Accepted in final form November 3, 2003.

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