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Amino-terminal deletion of 53% of dystrophin results in an intermediate Duchenne-Becker muscular dystrophy phenotype

Division of Genetics, International Center for Medical Research (Drs. Takeshima, Narita, Wada, and Matsuo), and Department of Pediatrics (Drs. Nishio and Nakamura), Kobe University School of Medicine, Kobe, Japan; and the Department of Pediatrics (Drs. Yuka Ishikawa, Yukitoshi Ishikawa, and Minami), National Sanatorium Yakumo Hospital, Hokkaido, Japan.

We report a Japanese boy with muscular dystrophy whose clinical symptoms were intermediate between those usually considered typical of Duchenne and Becker muscular dystrophies. The patient had a large inframe deletion extending from exons 3 to 41 of the dystrophin gene, which would be expected to cause the production of a dystrophin protein composing only 53% of the normal polypeptide chain. Such an inframe deletion would be expected to cause Becker muscular dystrophy. We did not obtain evidence for alternative splicing or for RNA editing. Immunocyto-chemical analysis of skeletal muscle showed that a dystrophin-related polypeptide was detectable with antibody directed against the carboxyl-terminal part of the polypeptide but not with antibodies directed against the amino-terminal part, although labeling by antibody against the carboxyl-terminal was faint and patchy. The severity of the disease in this case may be due to the lack of the amino-terminal, actin-binding domain of dystrophin.

Address correspondence and reprint requests to Dr. Masafumi Matsuo, Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650, Japan.

Supported by grants from the Japanese Ministry of Education, Science and Culture; from the National Center of Neurology and Psychiatry (NCNP) of the Japanese Ministry of Health and Welfare; and from the Epilepsy Research Foundation.

Received November 23, 1993. Accepted in final form February 14, 1994.

This article has been cited by other articles:

				G. B. Banks, P. Gregorevic, J. M. Allen, E. E. Finn, and J. S. Chamberlain Functional capacity of dystrophins carrying deletions in the N-terminal actin-binding domain Hum. Mol. Genet., September 1, 2007; 16(17): 2105 - 2113. [Abstract] [Full Text] [PDF]