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About 205 results

ALLMedicine™ Dystrophinopathies Center

Research & Reviews  80 results

Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch...
https://doi.org/10.1093/hmg/ddab326
Human Molecular Genetics; Kiriaev L, Houweling PJ et. al.

Nov 12th, 2021 - The common null polymorphism (R577X) in the ACTN3 gene is present in over 1.5 billion people worldwide and results in the absence of the protein α-actinin-3 from the Z-discs of fast-twitch skeletal muscle fibres. We have previously reported that t...

Intellectual disability in paediatric patients with genetic muscle diseases.
https://doi.org/10.1016/j.nmd.2021.08.012
Neuromuscular Disorders : NMD; Specht S, Straub V

Nov 6th, 2021 - The differential diagnosis of genetic muscle disease has become increasingly difficult due to the rapid progress in genetic medicine in recent years. Where classifications based on the clinical picture were attributed to one gene only a few years ...

Intrafamilial phenotypic heterogeneity related to a new DMD splice site variant.
https://doi.org/10.1016/j.nmd.2021.05.013
Neuromuscular Disorders : NMD; Coimbra Neto AR, de Carvalho SC et. al.

Jul 28th, 2021 - Dystrophinopathies are a group of X-linked neuromuscular disorders that result from pathogenic variants in the DMD gene. Their pathophysiological substrate is the defective expression of dystrophin in many tissues. While patients from the same ped...

Focus on the road to modelling cardiomyopathy in muscular dystrophy.
https://doi.org/10.1093/cvr/cvab232
Cardiovascular Research; Canonico F, Chirivi M et. al.

Jul 14th, 2021 - Alterations in the DMD gene, which codes for the protein dystrophin, cause forms of dystrophinopathies such as Duchenne muscular dystrophy, an X-linked disease. Cardiomyopathy linked to DMD mutations is becoming the leading cause of death in patie...

Clinical utility of 12-lead electrocardiogram in evaluating heart disease in patients w...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8588368
Annals of Noninvasive Electrocardiology : the Official Jo... Nikhanj A, Yogasundaram H et. al.

Jul 13th, 2021 - Heart disease remains a leading cause of mortality in patients with muscular dystrophy (MD), and cardiac assessment by standard imaging modalities is challenging due to the prominence of physical limitations. In this prospective cohort study of 16...

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Clinicaltrials.gov  2 results

Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy (CICS)
https://clinicaltrials.gov/ct2/show/NCT02897921

May 21st, 2018 - Background: Many myopathies are inherited in a recessive manner, but in some of these recessively inherited disorders, clinical manifestations may potentially manifest in carriers of just a single mutation. This has recently been demonstrated by r...

Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies
https://clinicaltrials.gov/ct2/show/NCT02109692

May 15th, 2018 - Duchenne muscular dystrophy (DMD) , caused by mutations in the DMD gene, is the most common and most severe progressive dystrophy of the child. Although the development is rapidly progressive , there is variability in the severity of the disease b...

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