Presentation
In the present research seminar, Julien Ochala will present what we know about these faulty (or mutant) myosin proteins and how they induce human pathological states. Current experimental treatments will also be discussed. [cermofc.uqam.ca]
Amyloid is present in a few inclusions as revealed by Congo staining and fluorescence microscopy with Texas red filter (c) Fig. 5 Dominant myosin IIa myopathy. [pubmed.ncbi.nlm.nih.gov]
The tested genes were present in combination (79%) and alone (19.6%). Genes of blaCTX-M were most common (82.6%), followed by blaTEM (73.7%) and blaSHV (53.7%). [agris.fao.org]
Musculoskeletal
- Myopathy
myopathy: linkage to chromosome 14, Am J Hum Genet., № 56, с. 422 Lamont, Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy, J Neurol Neurosurg Psychiatry., № 77, с. 208 https://doi.org/10.1136/jnnp.2005.073825 [ouci.dntb.gov.ua]
Description Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. [medlineplus.gov]
Myopathies with scapuloperoneal, distal or limb-girdle muscle weakness including entities, such as myosin storage myopathy and Laing distal myopathy are the result of usually dominant mutations in the gene for slow/β cardiac MyHC (MYH7). [pubmed.ncbi.nlm.nih.gov]
We propose the term myosin storage myopathy for this disease. Find Full Text Links for this Article Related Papers [read.qxmd.com]
Treatment
Portrait of the Pr Julien Ochala Towards a treatment for myosinopathies Abstract: Over 40% of the human body is made up of skeletal muscles. These are composed of numerous cells called muscle fibres. [cermofc.uqam.ca]