Glossary of Terms

A self-replicating material that is present in nearly all living organisms as the main constituent of chromosomes. It is the carrier of genetic information.

This describes the mechanism by which a dominant mutation can cause disease. A mutation whose gene product adversely affects the normal (wild type) gene product within the same cell. The mutated copy may associate with the normal copy and cause dysfunction of both. In some cases, such as collagen (Ullrich CMD), one dominant negative mutation may be more harmful than having one mutation causing the production of no gene product (null mutation or null alleles), which only cause disease when present in both gene copies so that absolutely no product can be made.

A drug currently being tested to slow apoptosis (muscle cell death)

Molecular genetic testing to identify larger size deletions or duplications (typically between 40 basepairs and 40 Kilobases) of DNA within a gene. These methods typically do not detect smaller deletions or duplications of a few base pairs (which can be identified by other methods). Methods used include: array CGH; Multiplex Ligation-dependent Probe Amplification (MLPA); quantitative, real-time, or deletion-specific PCR; or Southern blot.

When digested food does not move through the stomach or intestines at the right speed. Digested food moves through our body when the muscles in our intestines move like a wave to push the food along. Sometimes the wave moves too slowly and can cause constipation. Other times it moves too quickly and can cause diarrhea.

Dystrophin, or DMD, is the largets known human gene and provides instructions for making a protein called dystropohin. The protein is located primarily in muscles used for movement (skeletal muscles) and in the heart (caridac muscles). Small amounts of dystrophin are present in nerve cells in the brain.

The degeneration and replacement of muscle tissue by fatty cells or fibrosis.

The lengthending of muscle while producing force, usually by returning from a shortened (concentric) position to a resting position. Using the same example above, the lowering the weight back down during a biceps curl.

An ultrasound image of the heart that demonstrates the size, motion, and composition of cardiac structures

The CMD Subtype cause by genetic defects in the Emerin, LMNA, or FHL1 gene that causes muscle weakness and cardiac dysfunction.

Electronic Health Record.

As measured during an echocardiogram, the blood present in the ventricle at the end of diastole and expelled during contraction of the heart.

 

An electrocardiogram (EKG or ECG) is a test that checks for problems with the electrical activity of your heart, showing the heart's electical activity as line tracing on paper; the spikes and dips in the tracings are called waves.

European Medicines Agency, a federal agency responsible for approving the trial and use of drugs and other interventions in the European Union

Emerin is a protein that in humans is encoded by the EMD gene, also known as the STA gene. Emerin, together with LEMD3, is a LEM domain-containing integral protein of the inner nuclear membrane in vertebrates.