SYDNEY -- For children suffering from a deadly muscle disease having no known treatment or cure yet, a new Australian study provides them with renewed hope. According to a press release from the ...
1 Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK 2 Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK Methods We ...
1 Department of Clinical Development, Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan 2 Department of Neuromuscular Research, National Institute of Neuroscience ...
CIM and CIP are common complications of critical care. Both CIM and CIP cause limb weakness and weakness of muscles used for breathing. CIM and CIP make people more unwell, increase mortality and slow ...
The sources on MONDO:0018773 indicate HSPB8 as the causative gene, same as https://omim.org/entry/621078 on MONDO:0976133. And OMIM 621078 and Orpha 476093 https ...
The final, formatted version of the article will be published soon. Myofibrillar myopathy is a cause of rare and severe pediatric cardiomyopathies. Few descriptions of patients carrying the rare ...
1 Man, 3 Hearts: NJ Survivor Whose Story Touched Thousands Dies At 41 Christophe Lafontant, a New Jersey man who inspired thousands through his fight against rare disease, died on Sunday, April 27. He ...
If your doctor has suggested that you may have a myopathy, you likely have a lot of questions. There are many types of myopathies with different causes and outlooks. Myopathies are a class of diseases ...
Background: Bcl2-associated athanogene 3 (BAG3) is a multifunctional adaptor protein that regulates diverse cellular functions. Mutations in BAG3 are causally linked to myofibrillar myopathy and ...
aDepartment of Anaesthesia, Intensive Care, and Perioperative Medicine, Division of Neuroanaesthesia and Neurocritical Care, University of Brescia, Spedali Civili, Brescia, Italy Critical illness ...