Pediatrics In Review, 2000 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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Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring
Molecular Therapy: Methods & Clinical Development, 2020 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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Clinical and genetic characteristics of congenital muscular dystrophies (part 2)
Нервно-мышечные болезни, 2020 Dystroglycanopathy is one of the groups of congenital muscular dystrophies, the occurrence of which is associated with a disorder of α-dystroglycan glycosylation. To date, 18 genes responsible for the development of this condition are known. The 2nd part
P. A. Chausova +2 more
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Cardiac involvement in children with neuro-muscular disorders
Нервно-мышечные болезни, 2015 Many inherited neuromuscular disorders include cardiac involvement as a typical clinical feature. Among the most common of them is the group of muscular dystrophies.
E. N. Arkhipova
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Role of Immunoglobulins in Muscular Dystrophies and Inflammatory Myopathies
Frontiers in Immunology, 2021 Muscular dystrophies and inflammatory myopathies are heterogeneous muscular disorders characterized by progressive muscle weakness and mass loss. Despite the high variability of etiology, inflammation and involvement of both innate and adaptive immune ...
Andrea Farini +4 more
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Implications of notch signaling in duchenne muscular dystrophy
Frontiers in Physiology, 2022 This review focuses upon the implications of the Notch signaling pathway in muscular dystrophies, particularly Duchenne muscular dystrophy (DMD): a pervasive and catastrophic condition concerned with skeletal muscle degeneration.
Lily Den Hartog, Atsushi Asakura
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A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan [PDF]
, 2003 Cataloged from PDF version of article.The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood.
Atalay, R. C. +15 more
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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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The myokine GDF-15 is a potential biomarker for myositis and associates with the protein aggregates of sporadic inclusion body myositis. [PDF]
, 2020 Background: The cytokine growth differentiation factor-15 (GDF-15) has been associated with inflammatory and mitochondrial disease, warranting exploration of its expression in myositis patients.
De Bleecker, Jan +2 more
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Facioscapulohumeral Muscular Dystrophy [PDF]
Neurologic Clinics, 2014 This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD).FSHD comprises two genetically distinct types that converge on a common downstream pathway of the expression of the toxic protein DUX4.
Jeffrey, Statland, Rabi, Tawil
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