Actinopathies and Myosinopathies
| العنوان: | Actinopathies and Myosinopathies |
|---|---|
| المؤلفون: | Hans H. Goebel, Nigel G. Laing |
| المصدر: | Brain Pathol |
| بيانات النشر: | Wiley, 2009. |
| سنة النشر: | 2009 |
| مصطلحات موضوعية: | Rapidly progressive course, General Neuroscience, macromolecular substances, Myosins, Protein aggregation, Biology, Clinical onset, Actins, Pathology and Forensic Medicine, Cell biology, Protracted course, Muscular Diseases, Biochemistry, Myosin, Humans, MYH7, Neurology (clinical), MINI‐SYMPOSIUM: Protein Aggregate Myopathies, Gene, Actin |
| الوصف: | The currently recognized two forms of "anabolic" protein aggregate myopathies, that is, defects in development, maturation and final formation of respective actin and myosin filaments encompass actinopathies and myosinopathies. The former are marked by mutations in the ACTA1 gene, largely of the de novo type. Aggregates of actin filaments are deposited within muscle fibers. Early clinical onset is often congenital; most patients run a rapidly progressive course and die during their first 2 years of life. Myosinopathies or myosin storage myopathies also commence in childhood, but show a much more protracted course owing to mutations in the myosin heavy chain gene MYH7. Protein aggregation consists of granular material in muscle fibers and few, if any, filaments. |
| تدمد: | 1750-3639 1015-6305 |
| DOI: | 10.1111/j.1750-3639.2009.00287.x |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2960358202587ab7d4b4094e25b5f74d https://doi.org/10.1111/j.1750-3639.2009.00287.x |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....2960358202587ab7d4b4094e25b5f74d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17503639 10156305 |
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| DOI: | 10.1111/j.1750-3639.2009.00287.x |