LGMD-1B (Lamin A/C)

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?

Two already-approved drugs have been found to benefit cardiac function in mice with lamin A/C mutations, which underlie a form of EDMD and LGMD1B

posted on July 30, 2012 - 6:00am
Update (Sept. 10, 2012): Information about the potential for serious side effects with temsirolimus and rapamycin was added to this article.

An interview with MDA research grantee Howard Worman explores new ideas for treating the cardiac abnormalities associated with lamin A/C mutations

posted on May 30, 2012 - 2:15pm
Recently, MDA grantee Howard Worman at Columbia University, and colleagues, published encouraging results about the effects of a drug called selumetinib on the hearts of mice with a genetic mutation that's found in a form of Emery-Dreifuss muscular dystrophy (EDMD). 

The drug improved heart function and survival in mice with lamin A/C mutations, which cause lamin A/C-related Emery-Dreifuss MD and type 1B limb-girdle MD

posted on May 18, 2012 - 2:00pm
Update (June 1, 2012): This story was updated to include the availability of a podcast on this topic.

The pace of research can seem unreasonably slow; here are a few reasons why

posted on January 1, 2012 - 3:11pm
QUEST Vol. 19, No. 1
John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human...

Several recent studies have found that the stem cell 'reprogramming' processes can lead to dangerous abnormalities

posted on September 20, 2011 - 10:52am
Stem cells have been much in the news lately, including for neuromuscular diseases.

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

The biggest problem at an ER may not be the one you go in with, but the one you encounter there

posted on July 1, 2011 - 4:18pm
QUEST Vol. 18, No. 3
When a medical emergency strikes — and the patient is a person with a neuromuscular disease — it’s not just getting to the emergency room quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.