The Role of Polymorphic Short Tandem (CA)n Repeat Loci Segregation Analysis in the Detection of Duchenne Muscular Dystrophy Carriers and Prenatal Diagnosis

2005 ◽  
Vol 9 (2) ◽  
pp. 67-80 ◽  
Author(s):  
Veronica Ferreiro ◽  
Florencia Giliberto ◽  
Liliana Francipane ◽  
Irene Szijan
Keyword(s):  
Prenatal Diagnosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Segregation Analysis ◽  
Short Tandem

Prenatal diagnosis of duchenne/becker muscular dystrophy by short tandem repeat segregation analysis in argentine families

2011 ◽  
Vol 43 (4) ◽  
pp. 510-517 ◽  
Author(s):  
Florencia Giliberto ◽  
Verónica Ferreiro ◽  
Francisco Massot ◽  
Marcela Ferrer ◽  
Liliana Francipane ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Tandem Repeat ◽  
Short Tandem Repeat ◽  
Segregation Analysis ◽  
Becker Muscular Dystrophy ◽  
Short Tandem

Have Duchenne Muscular Dystrophy Patients an Increased Cancer Risk?

2021 ◽  
pp. 1-5
Author(s):  
Gian Luca Vita ◽  
Luisa Politano ◽  
Angela Berardinelli ◽  
Giuseppe Vita
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Systematic Investigation ◽  
Mdx Mice ◽  
True Incidence ◽  
Patients With Cancer ◽  
Dmd Gene ◽  
Age Range ◽  
Prevalence Of Cancer

Background: Increasing evidence suggests that Duchenne muscular dystrophy (DMD) gene is involved in the occurrence of different types of cancer. Moreover, development of sarcomas was reported in mdx mice, the murine model of DMD, in older age. So far, nine isolated DMD patients were reported with concomitant cancer, four of whom with rhabdomyosarcoma (RMS), but no systematic investigation was performed about the true incidence of cancer in DMD. Methods: All members of the Italian Association of Myology were asked about the occurrence of cancer in their DMD patients in the last 30 years. Results: Four DMD patients with cancer were reported after checking 2455 medical records. One developed brain tumour at the age of 35 years. Two patients had alveolar RMS at 14 and 17 years of age. The fourth patient had a benign enchondroma when 11-year-old. Conclusion: Prevalence of cancer in general in the Italian DMD patients does not seem to be different from that in the general population with the same age range. Although the small numbers herein presented do not allow definitive conclusion, the frequent occurrence of RMS in DMD patients raises an alert for basic researchers and clinicians. The role of DMD gene in cancer merits further investigations.

Genetic epidemiology of duchenne muscular dystrophy in Japan: Classical segregation analysis

1987 ◽  
Vol 4 (6) ◽  
pp. 425-432 ◽  
Author(s):  
Masao Kanamori ◽  
Newton E. Morton ◽  
Keiko Fujiki ◽  
Kiyotaro Kondo ◽  
D. C. Rao ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Genetic Epidemiology ◽  
Segregation Analysis

Prenatal diagnosis of Duchenne muscular dystrophy by radio-immunoassay of myoglobin in amniotic fluid

2008 ◽  
Vol 21 (5) ◽  
pp. 354-355 ◽  
Author(s):  
O. Török ◽  
K. Norregaard-Hansen ◽  
M. Szokol ◽  
K. Csécsei ◽  
A. Harsányi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Amniotic Fluid ◽  
Radio Immunoassay

scholarly journals ROLE OF PANCHAKARMA IN DUCHENNE MUSCULAR DYSTROPHY

2013 ◽  
Vol 4 (2) ◽  
pp. 272-275
Author(s):  
Ashutosh Chaturvedi ◽  
Prasanna N Rao ◽  
Shailaja U ◽  
M Ashvini Kumar
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy

scholarly journals The microRNA, miR-133b, functions to slow Duchenne muscular dystrophy pathogenesis

2020 ◽  
Author(s):  
Thomas Taetzsch ◽  
Dillon Shapiro ◽  
Randa Eldosougi ◽  
Tracey Myers ◽  
Robert Settlage ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Skeletal Muscles ◽  
Tibialis Anterior Muscle ◽  
Muscle Fibers ◽  
Progressive Degeneration ◽  
Protein Encoding ◽  
Small Muscle ◽  
Encoding Genes

AbstractDuchenne muscular dystrophy (DMD) is characterized by progressive degeneration of skeletal muscles. To date, there are no treatments available to slow or prevent the disease. Hence, it remains essential to identify molecular factors that promote muscle biogenesis since they could serve as therapeutic targets for treating DMD. While the muscle enriched microRNA, miR-133b, has been implicated in the biogenesis of muscle fibers, its role in DMD remains unknown. To assess the role of miR-133b in DMD-affected skeletal muscles, we genetically ablated miR-133b in the mdx mouse model of DMD. In the absence of miR-133b, the tibialis anterior muscle of juvenile and adult mdx mice is populated by small muscle fibers with centralized nuclei, exhibits increased fibrosis, and thickened interstitial space. Additional analysis revealed that loss of miR-133b exacerbates DMD-pathogenesis partly by altering the number of satellite cells and levels of protein-encoding genes, including previously identified miR-133b targets as well as genes involved in cell proliferation and fibrosis. Altogether, our data demonstrate that skeletal muscles utilize miR-133b to mitigate the deleterious effects of DMD.

scholarly journals Mast cells in the pathophysiology of Duchenne muscular dystrophy in Golden Retriever dogs

2020 ◽  
Vol 40 (10) ◽  
pp. 791-797
Author(s):  
Isabela M. Martins ◽  
Lygia M.M. Malvestio ◽  
Jair R. Engracia-Filho ◽  
Gustavo S. Claudiano ◽  
Flávio R. Moraes ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Mast Cells ◽  
Muscular Dystrophy ◽  
Fibrous Tissue ◽  
Control Group ◽  
Golden Retriever ◽  
Collagenous Tissue ◽  
Muscle Types ◽  
Muscle Groups

ABSTRACT: The Golden Retriever muscular dystrophy (GRMD) is one of the best models of Duchenne muscular dystrophy (DMD), with similar genotypic and phenotypic manifestations. Progressive proliferation of connective tissue in the endomysium of the muscle fibers occurs in parallel with the clinical course of the disease in GRMD animals. Previous studies suggest a relationship between mast cells and the deposition of fibrous tissue due to the release of mediators that recruit fibroblasts. The aim of this study was to evaluate the presence of mast cells and their relationship with muscle injury and fibrosis in GRMD dogs of different ages. Samples of muscle groups from six GRMD and four control dogs, aged 2 to 8 months, were collected and analyzed. The samples were processed and stained with HE, toluidine blue, and Azan trichrome. Our results showed that there was a significant increase in infiltration of mast cells in all muscle groups of GRMD dogs compared to the control group. The average number of mast cells, as well as the deposition of fibrous tissue, decreased with age in GRMD dogs. In the control group, all muscle types showed a significant increase in the amount of collagenous tissue. This suggests increased mast cell degranulation occurred in younger GRMD dogs, resulting in increased interstitial space and fibrous tissue in muscle, which then gradually decreased over time as the dogs aged. However, further studies are needed to clarify the role of mast cells in the pathogenesis of fibrosis.

scholarly journals Oedema-fibrosis in Duchenne Muscular Dystrophy: Role of cardiovascular magnetic resonance imaging

2017 ◽  
Vol 47 (12) ◽  
pp. e12843 ◽  
Author(s):  
Sophie Mavrogeni ◽  
Antigoni Papavasiliou ◽  
Katerina Giannakopoulou ◽  
George Markousis-Mavrogenis ◽  
Maria Roser Pons ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Cardiovascular Magnetic Resonance ◽  
Duchenne Muscular Dystrophy ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Cardiovascular Magnetic Resonance Imaging ◽  
Resonance Imaging
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