Results 11 to 20 of about 54,763 (333)
Current Biology, 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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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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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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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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Congenital muscular dystrophy: from muscle to brain. [PDF]
, 2016 Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G +7 more
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Congenital muscular dystrophies: New aspects of an expanding group of disorders [PDF]
, 2007 The congenital muscular dystrophies comprise a genetically and clinically heterogeneous group of disorders characterized by early onset of progressive muscle weakness and often involvement of other organ systems such as the brain and eyes.
Cohn, Ronald D., Lisi, Matthew T.
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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 +4 more
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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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Skeletal muscle in health and disease
Disease Models & Mechanisms, 2020 Skeletal muscle fibres are multinucleated cells that contain postmitotic nuclei (i.e. they are no longer able to divide) and perform muscle contraction.
Jennifer Morgan, Terence Partridge
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