Glossary of Terms
Click on a word/phrase below to see its definition.
A CMD Subtype that results from gene defects affecting the production of collagen type 6 protein in the extracellular matrix of the muscle.
A variation in the DNA sequence of a given gene, such as a mutation or polymorphism (see allele).
Variant of Unknown Significance (VOUS)
An alteration in the normal sequence of a gene, the significance of which is unclear until further study of the genotype and corresponding phenotype in a sufficiently large population; complete gene sequencing often identifies numerous (sometimes hundreds) allelic variants for a given gene.
A device that provides breathing support or artificial respiration
Something done, made, brought about, or undertaken of one's own accord or by free choice.
Variant of Unknown Significance; a mutation found during genetic testing whose pathogenicity is unknown. Sometimes also indicated as VUS.
Variant of Unknown Significance; a mutation found during genetic testing whose pathogenicity is unknown. Sometimes also indicated as VOUS.
A molecular genetic technique to separate proteins, by running on a gel, and identification of the proteins by immunological staining techniques
Having a prominent vertebral border usually owing to weakness of one of the muscles holding the scapula in place
A genetic inheritance pattern pertaining to genes on the sex chromosome "x" (females are "XX", males are "XY")
A measure taken during a DEXA scan, referring to the density of bone as compared with what is normally expected in a healthy adult of the same gender; Z-score is the number of units — called standard deviations — above or below the average