Detection of Preclinical Duchenne Muscular Dystrophy and its Female Carriers

2015 ◽  
pp. 18-22
Author(s):  
Robert Beckmann
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Female Carriers

Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy

2019 ◽  
Vol 29 (7) ◽  
pp. 487-496 ◽  
Author(s):  
Corinna Preuße ◽  
Arpad von Moers ◽  
Heike Kölbel ◽  
Debora Pehl ◽  
Hans-Hilmar Goebel ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Female Carriers

scholarly journals Three Cases of Manifesting Female Carriers in Patients with Duchenne Muscular Dystrophy

2011 ◽  
Vol 52 (1) ◽  
pp. 192 ◽  
Author(s):  
Tae-Jin Song ◽  
Kyung-A Lee ◽  
Seong-Woong Kang ◽  
Hanna Cho ◽  
Young-Chul Choi
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Female Carriers

scholarly journals Diagnostic utility of cardiac magnetic resonance for detection of cardiac involvement in female carriers of Duchenne muscular dystrophy

Heart Asia ◽  
2010 ◽  
Vol 2 (1) ◽  
pp. 52-55 ◽  
Author(s):  
T. Iwase ◽  
S. Takao ◽  
M. Akaike ◽  
K. Adachi ◽  
Y. Sumitomo-Ueda ◽  
...  
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Duchenne Muscular Dystrophy ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Cardiac Involvement ◽  
Diagnostic Utility ◽  
Female Carriers

scholarly journals Symptomatic female carriers of Duchenne muscular dystrophy (DMD): Genetic and clinical characterization

2014 ◽  
Vol 336 (1-2) ◽  
pp. 36-41 ◽  
Author(s):  
Florencia Giliberto ◽  
Claudia Pamela Radic ◽  
Leonela Luce ◽  
Verónica Ferreiro ◽  
Carlos de Brasi ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Female Carriers

scholarly journals Female Carriers of Duchenne Muscular Dystrophy

2013 ◽  
Vol 10 (2) ◽  
pp. 94-98 ◽  
Author(s):  
Yu Na Cho ◽  
Young-Chul Choi
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Female Carriers

Abstract 478: Connexin-43 Reduction Rescues Cardiac and Skeletal Muscle Pathology in a Novel Mouse Model of Duchenne Muscular Dystrophy Symptomatic Carriers

2020 ◽  
Vol 127 (Suppl_1) ◽  
Author(s):  
Julie Nouet ◽  
Eric Himelman ◽  
Diego Fraidenraich
Keyword(s):  
Skeletal Muscle ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mouse Model ◽  
Muscle Fiber ◽  
Connexin 43 ◽  
Muscle Fibers ◽  
Skeletal Muscle Fiber ◽  
Muscle Pathology ◽  
Female Carriers

Duchenne muscular dystrophy (DMD) and its associated cardiomyopathy manifest in 8-10% of all female carriers however research remains male-centric. Although underrepresented, symptomatic females face the risk of cardiac, respiratory, and skeletal muscle problems. Basic research and clinical trials exclude female carriers therefore developments in treatment expose females to unknown safety and efficacy issues. The bottleneck is largely due to the absence of a faithful mouse model. To generate a mouse model, we injected mdx embryonic stem cells (ESCs) into wild-type (WT) blastocysts ( mdx /WT chimera). The cardiac and skeletal muscle phenotype recapitulates the same generated as a consequence of x-inactivation in human manifesting female patients. In the heart, mdx /WT chimeras develop fibrotic cardiomyopathy. In the skeletal muscle, we found evidence of fibrosis, inflammation and muscle weakness. We found that Connexin-43 (Cx43), the primary gap junctional protein in the heart, was pathologically enhanced and remodeled in mdx /WT chimeras. Cx43 was also enhanced in the dystrophic skeletal muscle. Genetic reduction of Cx43-copy number protected mdx /WT chimeras from cardiac and skeletal muscle fiber damage. The latter result was unexpected because Cx43 is not expressed in mature muscle fibers. Upon further investigation, Cx43 was localized to the mononuclear cells invading the interstitial space between dystrophic skeletal muscle fibers. Pathologically enhanced activity of Cx43 in mdx FACS-macrophages was observed via ethidium bromide uptake and the Cx43 hemichannel peptide mimetic, Gap19, inhibited Cx43 function in a dose-dependent manner. Because an excess of Cx43 has been associated with cell death, we believe that Cx43 reduction in invading mdx macrophages benefits the skeletal muscle of understudied DMD carriers, perhaps by a paracrine mechanism involving macrophage-skeletal muscle fiber communication.

Identification of Duchenne Muscular Dystrophy Female Carriers by Fluorescence In Situ Hybridization and RT-PCR

2008 ◽  
Vol 12 (2) ◽  
pp. 221-223 ◽  
Author(s):  
Ana Claudia Velázquez-Wong ◽  
César Hernández-Huerta ◽  
Areli Márquez-Calixto ◽  
Fidel Omar Hernández-Aguilar ◽  
Maricela Rodríguez-Cruz ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Fluorescence In Situ Hybridization ◽  
Rt Pcr ◽  
Female Carriers

Female carriers of Duchenne muscular dystrophy: a dilemma

2008 ◽  
Vol 31 (5) ◽  
pp. 288-296 ◽  
Author(s):  
H. Isaacs ◽  
M. Badenhorst
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Female Carriers

scholarly journals Abnormalities of the Electrocardiogram in Female Carriers of Duchenne Muscular Dystrophy

BMJ ◽  
1969 ◽  
Vol 2 (5654) ◽  
pp. 418-420 ◽  
Author(s):  
A. E. H. Emery
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Female Carriers
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