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Duchenne muscular dystrophy [PDF]
Nature Reviews Disease Primers, 2021 Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. The disease is caused by mutations in DMD (encoding dystrophin) that abolish the production of dystrophin in muscle.
Dongsheng Duan +2 more
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Improved Muscle Function in Duchenne Muscular Dystrophy through L-Arginine and Metformin: An Investigator-Initiated, Open-Label, Single-Center, Proof-Of-Concept-Study. [PDF]
PLoS ONE, 2016 Altered neuronal nitric oxide synthase function in Duchenne muscular dystrophy leads to impaired mitochondrial function which is thought to be one cause of muscle damage in this disease.
Patricia Hafner +16 more
doaj +3 more sources
Frontiers in Genetics, 2023 Muscle damage and fibro-fatty replacement of skeletal muscles is a main pathologic feature of Duchenne muscular dystrophy (DMD) with more proximal muscles affected earlier and more distal affected later in the disease course, suggesting that different ...
Shirley Nieves-Rodriguez +19 more
doaj +1 more source
Duchenne muscular dystrophy [PDF]
BMJ, 2020 ### What you need to know Duchenne muscular dystrophy (DMD) is a progressive and disabling neuromuscular condition that is often diagnosed late.1 In the UK the mean age of diagnosis has remained fairly static over the past 30 years, currently around 4.3 years of age.2 On average it takes 1.6 years from first parental concern to diagnosis of DMD,2 by ...
Hannah, Fox +3 more
openaire +3 more sources
Communications Biology, 2022 A method to isolate and sequence individual nuclei from human and mouse muscle biopsies provides further insight into the mechanisms of dystrophin loss and repair, in the context of Duchenne muscular dystrophy.
Deirdre D. Scripture-Adams +12 more
doaj +1 more source
Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin
Scientific Reports, 2021 Emerging and promising therapeutic interventions for Duchenne muscular dystrophy (DMD) are confounded by the challenges of quantifying dystrophin. Current approaches have poor precision, require large amounts of tissue, and are difficult to standardize ...
David P. Bishop +10 more
doaj +1 more source
Children, 2021 Duchenne muscular dystrophy is a progressive and lethal X-linked recessive neuromuscular disease caused by mutations in the dystrophin gene. It has a high rate of diagnostic delay; early diagnosis and treatment are often not possible due to delayed ...
Eun-Woo Park +5 more
doaj +1 more source
The Egyptian Heart Journal, 2021 Background With the continuous improvement of the respiratory care of Duchenne muscular dystrophy patients, cardiac manifestations (heart failure and arrhythmias) become the leading causes of morbidity and mortality.
Mahmoud Shehta +4 more
doaj +1 more source
Frontiers in Cell and Developmental Biology, 2022 In vitro models of patient-derived muscle allow for more efficient development of genetic medicines for the muscular dystrophies, which often present mutation-specific pathologies.
Florian Barthélémy +14 more
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