Glossary of Terms

Induced-Pluripotent-Stem-Cell is a cell that has been reprogrammed to behave like an embryonic stem cell from an adult cell

A condition causing thickened, raised scars

An abnormal, curvature of the upper or thoracic region of the spine resulting in a hunched posture

A CMD Subtype that results from gene defects in the laminin-alpha2 gene affecting the production of merosin protein in the muscle cell.

(not to be confused with Laminin)

Lamins, also known as nuclear lamins are fibrous proteins in type V intermediate filaments, providing structural function and transcriptional regulation in the cell nucleus. Nuclear lamins interact with inner nuclear membrane proteins to form the nuclear lamina on the interior of the nuclear envelope.

(not to be confused with Lamin)

Laminin is a protein that produces merosin for the extracellular matrix. Laminins plays a major role in binding itself and other proteins together not only in the extracellular matrix but also to the muscle cell membrane. Laminins help to maintain muscle fiber stability.

A CMD Subtype that results from gene defects in the lamin A/C (LMNA) gene affectings production of lamin A and lamin C prteins within the nucleus of cells.

Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.

An implantable cardiac device to monitor (up to 3 years) heart rhythms and function

A CMD Subtype that results from gene defects in the lamin A/C gene affectings production of lamin A and lamin C prteins within the nucleus of cells.

An abnormal curvature of the lower or lumbar region of the spine resulting in a swaybacked posture

A commonly prescribed FDA-approved medication (an angiotensin II receptor antagonist) for hypertension which demonstrated clinical improvement and amelioration of fibrosis in the LAMA2-CMD mouse model.

Pertaining to the bones in the lower region of the spine

A white blood cell

A white blood cell