title: Amino-terminal deletion of 53% of dystrophin results in an intermediate Duchenne-Becker muscular dystrophy phenotype.
abstract: 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. Immunocytochemical 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.
authors.affiliation: Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Takeshima
authors.forename: H
authors.initials: H
authors.lastname: Nishio
authors.forename: N
authors.initials: N
authors.lastname: Narita
authors.forename: H
authors.initials: H
authors.lastname: Wada
authors.forename: Y
authors.initials: Y
authors.lastname: Ishikawa
authors.forename: Y
authors.initials: Y
authors.lastname: Ishikawa
authors.forename: R
authors.initials: R
authors.lastname: Minami
authors.forename: H
authors.initials: H
authors.lastname: Nakamura
authors.forename: M
authors.initials: M
authors.lastname: Matsuo
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D011247:Pregnancy
chemical_list: D016189:Dystrophin