LGMD-2K (POMT1)

Stanford University is collecting samples of blood, muscle and other tissues from people with neuromuscular disorders for use in research

posted on January 7, 2015 - 12:06pm
Ever wondered how someone with a neuromuscular disorder in his or her family might contribute to research efforts in this field?

New understanding of how the alpha-dystroglycan protein is glycosylated (sugar-coated) may have relevance for treating some forms of congenital and limb-girdle muscular dystrophy

posted on August 13, 2013 - 3:19pm
Glycosylation — "sugar-coating" — of the muscle protein alpha-dystroglycan is known to be a crucial part of muscle function. Without sufficient glycosylation, alpha-dystroglycan doesn't stick well to other proteins, and an important linkage between muscle fibers and their surroundings is disrupted.
posted on July 1, 2012 - 3:00pm
QUEST Vol. 19, No. 3
Matthew Disney is an associate professor in the Department of Chemistry at the Scripps Research Institute in Jupiter, Fla. He has MDA support to design small molecules that target the toxic RNA that underlies myotonic muscular dystrophy (MMD, also known as DM). MDA Medical and Science Editor Margaret Wahl talked with Matthew Disney about his work.

Research items about Friedreich's ataxia, myasthenia gravis, mitochondrial myopathies, type 1 myotonic dystrophy, gene therapy and gene modification

posted on July 7, 2011 - 10:28am
Edison drugs target FA, mitochondrial diseases

Researchers are surveying people with a congenital form of muscular dystrophy or myopathy about their perceptions of their quality of life and autonomy

posted on January 26, 2011 - 2:39pm
Researchers at the University of Michigan are seeking 30 young adults, ages 18-29, who have had symptoms of certain forms of muscular dystrophy or myopathy since birth, to complete an online survey that asks about their perceived quality of life and level of independence. The study also is recruiting 30 adults with no neuromuscular disease. Results will be used to identify ways that counselors...

Scientists have identified a protein cluster that patches damaged muscle-fiber membranes in muscular dystrophy.

posted on June 18, 2009 - 5:00pm
Scientists in the United States and Japan have identified a three-protein cluster that reseals damaged muscle-fiber membranes. The findings, published June 5, 2009, in the Journal of Biological Chemistry, could have implications for development of treatments for muscular dystrophies. The Muscle-Fiber Membrane