Disease or Syndrome
myofibrillar myopathy
Definitions related to myofibrillar myopathy:
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An inherited or sporadic disorder affecting the skeletal muscles.NCI ThesaurusU.S. National Cancer Institute, 2021
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Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.OrphaNetINSERM, 2021
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Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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Myofibrilar myopathy (MFM) is a neuromuscular disease characterized by slowly progressive muscle weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those further away from the trunk). Some affected individuals also experience muscle stiffness, aching, or cramps. Other symptoms that can be...National Center for Advancing Translational Sciences
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