Mutations in the lamin A/C gene, which codes for the lamin A and lamin C proteins, underlie one form of Emery-Dreifuss muscular dystrophy (EDMD) and the type 1B form of limb-girdle muscular dystrophy (LGMD1B). In both these disorders, cardiomyopathy (cardiac muscle deterioration) can develop along with skeletal muscle weakness.

Phrixus Pharmaceuticals in Ann Arbor, Mich., reported July 19, 2012, that its experimental drug Carmeseal demonstrated a beneficial effect on the diaphragm (the primary breathing muscle) in mice with a disease resembling Duchenne muscular dystrophy (DMD).

Zebrafish research models mimic myofibrillar myopathy

Type 1 myotonic dystrophy (MMD1, or DM1) and type 2 myotonic dystrophy (MMD2, or DM2) are complex, multisystem disorders caused by similar genetic flaws on chromosome 19 (MMD1) and chromosome 3 (MMD2). Treatments that target the underlying molecular causes of MMD1 and MMD2 are in development.

LGMD2D mice benefit from corrected human stem cells

A multinational team of scientists successfully transplanted genetically corrected muscle stem cells derived from people with type 2D limb-girdle muscular dystrophy (LGMD2D) into LGMD2D research mice and saw better muscle function in these mice than in similar mice that didn't receive the cells.

Researchers are very good at understanding what is going on with things they can’t see directly, whether it be the membranes of muscle cells or the motor neurons of the spinal cord. But what is true for the rest of us is equally true for scientists: Seeing something is often the quickest and most direct way to understand it.

John DeGeorge, 50, of Los Angeles, works as an IT (information technology) compliance consultant to make a living, but he lives to play the drums.

“I think I was born with an interest in making music, or making noise,” he says. Being the son of a former drummer with the Glenn Miller Orchestra, such a passion for music must be in the genes.

Eplerenone, a drug commonly used to prevent scarring after a heart attack, is being tested in a phase 2-3 clinical trial to determine whether it can stop or slow heart damage in people with Duchenne muscular dystrophy (DMD).  

Eplerenone blocks scarring that over time can turn heart muscle into nonfunctioning fatty tissue.