Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development. The new online resource gives detailed information about more than 80 of ...

Thanks to major progress in the understanding and management of rare congenital diseases and syndromes, many patients with these rare disorders are now living longer lives. With this progress it has ...

"We love her little smile." A baby who was born with a rare form of dwarfism is now home after spending the first six months of her life in the hospital. Paisley Courson was born with a severe ...

A new study has unveiled the crucial role of low-density lipoprotein receptor-related protein 1 (LRP1) in skeletal development. Researchers have found that a deficiency of LRP1 in skeletal progenitor ...

Please provide your email address to receive an email when new articles are posted on . The FDA granted orphan drug designation and rare pediatric disease designation for a treatment for autosomal ...

A University of Cincinnati researcher has received a five-year $2.3 million grant to study the role a protein in muscles plays in the development of a rare disease. The grant is from the National ...

Skeletal muscle channelopathies and myotonic disorders constitute a heterogeneous group of neuromuscular conditions caused by mutations that impair the function of ion channels, including sodium and ...

Researchers of the "Cell Biology and Physiology-LABRET" group of the University of Malaga (UMA), together with the Networking Biomedical Research Center in Bioengineering, Biomaterials and ...

Scientists at the University of Cincinnati and colleagues report that a regulatory protein found in skeletal muscle fiber may play an important role in the body’s fight or flight response when ...

UCI scientists have discovered a new treatment for the most common skeletal muscle disorder for people 50 and older, officials said. A new study shows that lithium chloride, normally used to treat ...