Genetic variants linked to severe form of muscular dystrophy
Researchers from Perth’s Rare Disease Genetics and Functional Genomics team have led a study that uncovered changes in a gene associated with a rare and severe form of muscular dystrophy.
Gene mutation discovery sheds light on rare muscle disorder
A ground-breaking study led by Dr Mridul Johari and Associate Professor Gina Ravenscroft, has identified that a genetic mutation is responsible for a rare and debilitating form of congenital myopathy.
Researchers at the Harry Perkins Institute of Medical Research and The University of Western Australia (UWA) have discovered the genetic cause of a rare muscle disease that causes muscle weakness, droopy eyelids and difficulty swallowing.
A collaborative study published in 2016 showed that the PPA2 mutation can cause sudden and unexpected cardiac arrest, usually between 4 and 20 months of age.
Congratulations to Jevin Parmar who learned yesterday that his peer-reviewed article was accepted in the Journal of Neurology, Neurosurgery and Psychiatry.
