BIOMAT Database Logo BIOMAT Database Logo

Amino-terminal deletion of 53% of dystrophin results in an intermediate Duchenne-Becker muscular dystrophy phenotype. 1994

Y Takeshima, and H Nishio, and N Narita, and H Wada, and Y Ishikawa, and Y Ishikawa, and R Minami, and H Nakamura, and M Matsuo
Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, 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. 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.

UI MeSH Term Description Entries
D008297 Male Males
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009136 Muscular Dystrophies A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS. Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000595 Amino Acid Sequence The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION. Protein Structure, Primary,Amino Acid Sequences,Sequence, Amino Acid,Sequences, Amino Acid,Primary Protein Structure,Primary Protein Structures,Protein Structures, Primary,Structure, Primary Protein,Structures, Primary Protein
D016189 Dystrophin A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.
D017353 Gene Deletion A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. Deletion, Gene,Deletions, Gene,Gene Deletions

Related Publications

Y Takeshima, and H Nishio, and N Narita, and H Wada, and Y Ishikawa, and Y Ishikawa, and R Minami, and H Nakamura, and M Matsuo
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy.
January 1989, Neuron,
Y Takeshima, and H Nishio, and N Narita, and H Wada, and Y Ishikawa, and Y Ishikawa, and R Minami, and H Nakamura, and M Matsuo
Patterns of dystrophin gene deletion in Egyptian Duchenne/Becker muscular dystrophy patients.
December 2007, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology,
Y Takeshima, and H Nishio, and N Narita, and H Wada, and Y Ishikawa, and Y Ishikawa, and R Minami, and H Nakamura, and M Matsuo
Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy.
January 1992, Pediatric neurology,
Y Takeshima, and H Nishio, and N Narita, and H Wada, and Y Ishikawa, and Y Ishikawa, and R Minami, and H Nakamura, and M Matsuo
Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin.
February 1991, American journal of human genetics,
Y Takeshima, and H Nishio, and N Narita, and H Wada, and Y Ishikawa, and Y Ishikawa, and R Minami, and H Nakamura, and M Matsuo
Dystrophin gene deletion in Chinese Duchenne/Becker muscular dystrophy patients via multiplex DNA amplification.
October 1992, Journal of the Formosan Medical Association = Taiwan yi zhi,
Y Takeshima, and H Nishio, and N Narita, and H Wada, and Y Ishikawa, and Y Ishikawa, and R Minami, and H Nakamura, and M Matsuo
Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy.
December 2005, Neurology,
Y Takeshima, and H Nishio, and N Narita, and H Wada, and Y Ishikawa, and Y Ishikawa, and R Minami, and H Nakamura, and M Matsuo
Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations.
January 1999, Human genetics,
Y Takeshima, and H Nishio, and N Narita, and H Wada, and Y Ishikawa, and Y Ishikawa, and R Minami, and H Nakamura, and M Matsuo
Dystrophin in frameshift deletion patients with Becker muscular dystrophy.
September 1992, American journal of human genetics,
Y Takeshima, and H Nishio, and N Narita, and H Wada, and Y Ishikawa, and Y Ishikawa, and R Minami, and H Nakamura, and M Matsuo
Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients.
December 2013, Journal of neurogenetics,
Y Takeshima, and H Nishio, and N Narita, and H Wada, and Y Ishikawa, and Y Ishikawa, and R Minami, and H Nakamura, and M Matsuo
Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy.
December 2002, Saudi medical journal,
Copied contents to your clipboard!