About one third of Duchenne muscular dystrophy (DMD) patients have no gross DNA rearrangements in the dystrophin gene detectable by Southern blot analysis or multiplex exon amplification.
Amplification of ten deletion-rich exons of the dystrophin gene by polymerase chain reaction shows deletions in 36 of 90 Japanese families with Duchenne muscular dystrophy.
An unusual case of infantile onset Duchenne muscular dystrophy (DMD) with an internal 3' genomic deletion, and a membrane localized non-functional dystrophin protein, was used to explore the functional activity of this region.
In our investigation of Duchenne muscular dystrophy (DMD)-Becker muscular dystrophy (BMD) gene in the Chinese, the analysis of relevant restriction fragment length polymorphisms (RFLPs) was first made in 30 normal female volunteers to determine their allele and genotype frequencies, and then in 29 DMD-BMD families for informativeness of different combinations of RFLPs in making carrier detection and prenatal diagnosis.
We thus conclude that immunohistochemical dystrophin staining can aid in differentiating DMD from preclinical DMD or BMD, as well as in the detection of DMD carriers.
We examined normal and dystrophic human myotubes in cell culture for expression of dystrophin, the protein product of the Duchenne muscular dystrophy locus.
A homologue of dystrophin is expressed at the neuromuscular junctions of normal individuals and DMD patients, and of normal and mdx mice. Immunological evidence.
To explain the observation of 3/23 FCMD males with abnormal dystrophin, we propose that dystrophin and the FCMD gene product interact and that the earlier onset and greater severity of these patients' phenotype (relative to Duchenne muscular dystrophy) are due to their being heterozygous for the FCMD mutation in addition to being hemizygous for Duchenne muscular dystrophy, a genotype that is predicted to occur in 1/175,000 Japanese males.
Determination of Duchenne muscular dystrophy carrier status by single strand conformation polymorphism analysis of deleted regions of the dystrophin locus.
Whereas the specific mechanisms leading to muscle pathology in Duchenne muscular dystrophy are still being debated it is apparent that the progressive weakness that occurs in this disease is the result of a chronic process that is initiated by dystrophin deficiency.
We identified five male patients with an abnormal dystrophin pattern diagnostic of Becker muscular dystrophy, and two female patients with dystrophin patterns consistent with a manifesting carrier of Duchenne muscular dystrophy diagnosis.
In the last one, with 3 affected patients, no DNA deletions were detected but immunohistochemical study of muscle biopsies showed a negative dystrophin pattern typical of DMD.
Three tandem duplications were previously identified in patients with Duchenne muscular dystrophy and were shown in each case to have a subset of dystrophin gene exons duplicated.
Although DNA analysis by Southern blotting with complementary DNAs representing the whole of the dystrophin coding sequence detected neither gross deletions nor duplications, immunohistochemistry and Western blotting of the biopsied skeletal muscle with an antidystrophin monoclonal antibody (dystrophin test) showed that the approximately 400-kd dystrophin was expressed normally at the sarcoplasmic membrane of the FCMD phenotype patient but was completely absent in the DMD phenotype patient.
A total of 162 Duchenne (DMD) patients and two girls with a DMD phenotype were analysed for deletions in the central region of the dystrophin gene in order to determine if there was a correlation between mental retardation (MR) and the pattern of deletion.
The most frequent causes for the X-linked muscular dystrophy of the allelic Duchenne (DMD) or Becker (BMD) type are partial deletions of the dystrophin gene.
In this brief review, we describe the clinical manifestations of Duchenne's muscular dystrophy (DMD) and other similar syndromes, outline the history of the dystrophin gene's identification and its relationship to these muscular dystrophies, and relate the importance of the gene's discovery to clinical neurology.We do not discuss treatment.