The Lancet, 2019 Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes responsible for these conditions have been identified, it is possible to accurately diagnose them and implement subtype-specific anticipatory care, as complications such as cardiac ...
Mercuri E., Bonnemann C. G., Muntoni F.
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Muscular dystrophy meets protein biochemistry, the mother of invention [PDF]
, 2017 Muscular dystrophies result from a defect in the linkage between the muscle fiber cytoskeleton and the basement membrane (BM). Congenital muscular dystrophy type MDC1A is caused by mutations in laminin α2 that either reduce its expression or impair its ...
Jeffrey H. Miner +3 more
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Psychosis in a Patient with Muscular Dystrophy : Case Report and Literature Review
European Psychiatry, 2023 Introduction Knowledge about muscular dystrophies and in particular X-linked inherited disorders such as Duchenne and Becker Muscular Dystrophy has been gradually acquired as more research studies have been conducted to better understand the ...
O. Ali, H. Raai
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Exploiting the full power of temporal gene expression profiling through a new statistical test: Application to the analysis of muscular dystrophy data [PDF]
, 2006 Background: The identification of biologically interesting genes in a temporal expression profiling dataset is challenging and complicated by high levels of experimental noise.
de Meijer, EJ +4 more
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The muscular dystrophies [PDF]
Postgraduate Medical Journal, 1992 In 1879 William Gowers, the eminent British neurologist, painted a remarkably lucid word picture of Duchenne muscular dystrophy in his series of lectures on pseudohypertrophic muscular paralysis, published in the Lancet.' This disease, he said, is one of the most interesting, and at the same time most sad, of all those with which we have to deal ...
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Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy [PDF]
, 2013 Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease ...
De Bleecker, Jan, De Paepe, Boel
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Artificial restoration of the linkage between laminin and dystroglycan ameliorates the disease progression of MDC1A muscular dystrophy at all stages [PDF]
, 2005 Laminin-α2 deficient congenital muscular dystrophy, classified as MDC1A, is a severe progressive muscle-wasting disease that leads to death in early childhood.
Meinen, Sarina
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A Poglut1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss [PDF]
, 2016 Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limbgirdle muscular dystrophy, we identified a missense mutation in ...
Cabrera Serrano, Macarena +5 more
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Limb-Girdle Muscular Dystrophies
Pediatric Neurology Briefs, 2003 The phenotype in limb-girdle muscular dystrophy (LGMD) type 21 was defined by mutation analysis, protein studies, and respiratory and cardiac involvement studied in 16 patients from 14 families with fukutin-related protein (FKRP) gene mutations and LGMD,
J Gordon Millichap
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Redox Homeostasis in Muscular Dystrophies
Cells, 2021 In recent years, growing evidence has suggested a prominent role of oxidative stress in the pathophysiology of several early- and adult-onset muscle disorders, although effective antioxidant treatments are still lacking.
Nicola Mosca +6 more
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