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Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah +2 more
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Muscular dystrophy is a group of genetically determined muscular disorders marked by progressive wasting and weakness of the skeletal muscle, but which often affect cardiac and smooth muscles or other tissues. The patterns of inheritance are either dominant or recessive although the gene may be defective because of a new mutation.
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Diagnosis of Cardiac Abnormalities in Muscular Dystrophies
Muscular disorders are mainly characterized by progressive skeletal muscle weakness. There are several aspects that can be monitored, which are used to differentiate between the types of muscular disorders, ranging from the targeted muscle up to the ...
Elisabeta Bădilă +3 more
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Annexins and Membrane Repair Dysfunctions in Muscular Dystrophies
Muscular dystrophies constitute a group of genetic disorders that cause weakness and progressive loss of skeletal muscle mass. Among them, Miyoshi muscular dystrophy 1 (MMD1), limb girdle muscular dystrophy type R2 (LGMDR2/2B), and LGMDR12 (2L) are ...
C. Croissant +3 more
semanticscholar +1 more source
Orofacial Manifestations Associated with Muscular Dystrophies: A Review
The aim of this review is to evaluate the developmental, functional, and morphological aspects of the craniofacial complex in patients with myotonic dystrophy type 1 (DM1), Facioscapulohumeral muscular dystrophy (FSHD), and Duchenne muscular dystrophy ...
Petros Papaefthymiou +2 more
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Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring
Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou +1 more
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Correction of muscular dystrophies by CRISPR gene editing.
Muscular dystrophies are debilitating disorders that result in progressive weakness and degeneration of skeletal muscle. Although the genetic mutations and clinical abnormalities of a variety of neuromuscular diseases are well known, no curative ...
F. Chemello, R. Bassel-Duby, E. Olson
semanticscholar +1 more source
The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID‐19 pandemic
The coronavirus disease 2019 (COVID‐19) pandemic has resulted in the reorganization of health‐care settings affecting clinical care delivery to patients with Duchenne and Becker muscular dystrophy (DBMD) as well as other inherited muscular dystrophies ...
Aravindhan Veerapandiyan +14 more
semanticscholar +1 more source
Stem cell therapy for muscular dystrophies.
Muscular dystrophies are a heterogeneous group of genetic diseases, characterized by progressive degeneration of skeletal and cardiac muscle. Despite the intense investigation of different therapeutic options, a definitive treatment has not been yet ...
S. Biressi, A. Filareto, T. Rando
semanticscholar +1 more source
A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies
Caveolae are the cholesterol-rich small invaginations of the plasma membrane present in many cell types including adipocytes, endothelial cells, epithelial cells, fibroblasts, smooth muscles, skeletal muscles and cardiac muscles.
B. S. Pradhan, T. Prószyński
semanticscholar +1 more source

