Prolonged Myosin Binding Increases Muscle Stiffness in Drosophila Models of Freeman-Sheldon Syndrome.
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DOI: 10.1016/j.bpj.2020.12.033
Abstract: Freeman-Sheldon Syndrome (FSS) is characterized by congenital contractures resulting from dominant point mutations in the embryonic isoform of muscle myosin. To investigate its disease mechanism, we used Drosophila models expressing FSS myosin mutations Y583S or… read more here.
Keywords: drosophila; myosin; muscle; freeman sheldon ... See more keywords
Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency
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DOI: 10.5535/arm.2020.44.2.165
Abstract: Freeman-Sheldon syndrome (FSS) is a rare distal arthrogryposis syndrome. There are few reports on the respiratory insufficiency of FSS. Additionally, there is no detailed information on pulmonary functional evaluation. A 17-year-old male patient with FSS… read more here.
Keywords: sheldon syndrome; freeman sheldon; pulmonary function; respiratory ... See more keywords