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Literature DB >> 3059802

Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy.

E Bonilla¹, B Schmidt, C E Samitt, A F Miranda, A P Hays, A B de Oliveira, H W Chang, S Servidei, E Ricci, D S Younger.

Abstract

Dystrophin is the gene product that is affected in Duchenne muscular dystrophy (DMD). Antibodies against dystrophin were used to study the protein in muscle fibers of carriers of the gene. The results showed that DMD carriers have normal and dystrophin-deficient fibers. Dystrophin immunohistochemistry may be helpful for the detection of DMD carriers.

Entities: Disease Gene

Mesh：

Substances：

Year: 1988 PMID： 3059802 PMCID： PMC1880814

Source DB: PubMed Journal: Am J Pathol ISSN： 0002-9440 Impact factor: 4.307

8 in total

1. MUSCLE HISTOLOGY IN CARRIERS OF DUCHENNE MUSCULAR DYSTROPHY.

Authors: A E EMERY
Journal: J Med Genet Date: 1965-03 Impact factor: 6.318

2. Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy.

Authors: B T Darras; J F Harper; U Francke
Journal: N Engl J Med Date: 1987-04-16 Impact factor: 91.245

Review 3. Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

Authors: H Moser
Journal: Hum Genet Date: 1984 Impact factor: 4.132

4. Dystrophin: the protein product of the Duchenne muscular dystrophy locus.

Authors: E P Hoffman; R H Brown; L M Kunkel
Journal: Cell Date: 1987-12-24 Impact factor: 41.582

5. Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface.

Authors: E Bonilla; C E Samitt; A F Miranda; A P Hays; G Salviati; S DiMauro; L M Kunkel; E P Hoffman; L P Rowland
Journal: Cell Date: 1988-08-12 Impact factor: 41.582

6. Gene action in the X-chromosome of the mouse (Mus musculus L.).

Authors: M F LYON
Journal: Nature Date: 1961-04-22 Impact factor: 49.962

7. Duchenne muscular dystrophy: high frequency of deletions.

Authors: R J Bartlett; M A Pericak-Vance; J Koh; L H Yamaoka; J C Chen; W Y Hung; M C Speer; M C Wapenaar; G J Van Ommen; E Bakker
Journal: Neurology Date: 1988-01 Impact factor: 9.910

8. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.

Authors: E P Hoffman; K H Fischbeck; R H Brown; M Johnson; R Medori; J D Loike; J B Harris; R Waterston; M Brooke; L Specht
Journal: N Engl J Med Date: 1988-05-26 Impact factor: 91.245

8 in total

17 in total

1. A model to estimate the expression of the dystrophin gene in muscle from female Becker muscular dystrophy carriers.

Authors: M Vainzof; M R Passos-Bueno; R C Pavanello; R Schreiber; M Zatz
Journal: J Med Genet Date: 1992-07 Impact factor: 6.318

2. Mechanosensitive channel properties and membrane mechanics in mouse dystrophic myotubes.

Authors: Thomas M Suchyna; Frederick Sachs
Journal: J Physiol Date: 2007-01-25 Impact factor: 5.182

3. A normal male with an inherited deletion of one exon within the DMD gene.

Authors: M Nordenskjöld; L Nicholson; L Edström; M Anvret; M Eiserman; C Slater; L Stolpe
Journal: Hum Genet Date: 1990-01 Impact factor: 4.132

4. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

Authors: J T Den Dunnen; P M Grootscholten; E Bakker; L A Blonden; H B Ginjaar; M C Wapenaar; H M van Paassen; C van Broeckhoven; P L Pearson; G J van Ommen
Journal: Am J Hum Genet Date: 1989-12 Impact factor: 11.025

Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy.

1. MUSCLE HISTOLOGY IN CARRIERS OF DUCHENNE MUSCULAR DYSTROPHY.

2. Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy.

Review 3. Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

4. Dystrophin: the protein product of the Duchenne muscular dystrophy locus.

5. Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface.

6. Gene action in the X-chromosome of the mouse (Mus musculus L.).

7. Duchenne muscular dystrophy: high frequency of deletions.

8. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.

1. A model to estimate the expression of the dystrophin gene in muscle from female Becker muscular dystrophy carriers.

2. Mechanosensitive channel properties and membrane mechanics in mouse dystrophic myotubes.

3. A normal male with an inherited deletion of one exon within the DMD gene.

4. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

5. Dystrophin immunohistochemistry in a symptomatic carrier of Becker muscular dystrophy.

6. Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses.

7. Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy.

8. Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

9. Becker-like muscular dystrophy in sisters.

10. Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy.