Sentences with phrase «myotubular myopathy»

Affected littermates exhibited signs clinically distinct from neuromuscular disorders previously characterized in the breed: exercise - induced collapse (EIC)[14], centronuclear myopathy (CNM)[15], and myotubular myopathy [16].

Myotubular Myopathy, X-linked, is a very rare sex - linked condition with symptoms similar to centronuclear myopathy (CNM).

The rare disorder, called myotubular myopathy, or MTM, affects only males.

UW Medicine researchers David Mack, Melissa Goddard, Jessica Snyder, Matthew Elverman, and Valerie Kelly co-authored the report, «Systemic AAV8 - mediated gene therapy drives whole - body correction of myotubular myopathy in dogs.»

Myotubular myopathy is estimated to affect 1 in 50,000 male births, and boys born with the condition often die in the first year of life.

Researchers who previously showed that a gene therapy treatment could save the lives of dogs with a deadly disease called myotubular myopathy — a type of muscular dystrophy that affects the skeletal muscles — have found that the therapy is long - lasting.

Not exact matches

Utilising the RDRF, we have deployed national and international patient - driven and clinical registries including: the Myotubular and Centronuclear Myopathy Patient Registry, the Global Angelman Syndrome Registry, the Familial Hypercholesterolaemia Australasia Network Registry, and the Australian and New Zealand Neuromuscular Disorders Registries (Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, and Myotonic Dystrophy Registries).