Glossary of Terms

Reduced, or insufficient glycosylation. Glycosylation is the reaction in which a carbohydrate, i.e. a glycosyl donor, is attached to a hydroxyl or other functional group of another molecule. In biology, glycosylation mainly refers in particular to the enzymatic process that attaches glycans to proteins, or other organic molecules

A condition resulting from underactive thyroid gland production

Hypotonic or hypotonia means having less than normal tone or tension. Children with CMD are often hypotonic at, or shortly after, birth.

Breathing at an abnoramlly slow rate, resulting in an increased amount of carbon dioxide in the blood.

An abnormally low concentration of oxygen in the blood.

The staining of a specific substance, such as muscle tissue, to identify and visualize the tissue

A mutation that does not cause a shift in the triplet reading frame; such mutations can, however, lead to an abnormal protein product.

The passing of traits to offspring from parents or ancestors.

The nuclear envelope, also known as the nuclear membrane, is made up of two lipid bilayer membranes which in eukaryotic cells surrounds the nucleus, which encases the genetic material. The nuclear envelope is made up of two lipid bilayer membranes. An inner nuclear membrane and an outer nuclear membrane. These membranes are connected to each other by nuclear pores.

The nuclear envelope, also known as the nuclear membrane, is made up of two lipid bilayer membranes which in eukaryotic cells surrounds the nucleus, which encases the genetic material. The nuclear envelope is made up of two lipid bilayer membranes. An inner nuclear membrane and an outer nuclear membrane. These membranes are connected to each other by nuclear pores.

DNA is the genetic language and is read from left to right in 3 letter words. Let us say a normal piece of DNA says “THE MAN HAS CAT AND HAT” . DNA language does not have spaces so in DNA language, above would read: THEMANHASCATANDHAT. In an insertion, one or more letters are inserted. If two letters BX and were inserted after MAN, reading the genetic language in DNA would not make sense: THE MAN BXH ASC ATA NDH AT.

An exon is the part of the gene that codes for the actual protein. On the chromosome the exons that make up the coding sequence for the protein are separated by introns. Upon reading of the gene, the cell cuts out the introns and puts the exons together (a process called splicing) so that the exons are now continuous with all the information necessary to make a protein. Mutations usually affect the information in exons or the way they are spliced together.

Genes have both noncoding (introns) and coding (exons) regions. The noncoding regions contain genetic information that gets cut out when the genetic information goes from DNA to RNA and is not integral to protein manufacture. Point mutations in the introns usually have no effect, unless they cause a shift in the reading frame through an insertion or deletion. Exons contain the actual genetic information that will be used to manufacture proteins. Point mutations, insertions, duplications and deletions all are types of mutations that change the genetic code and can lead to disease.

Intermittent positive pressure breaths/ventilation; a type of breathing exercise to promote more effective aeration of the lungs.

Intermittent positive pressure breaths/ventilation; a type of breathing exercise to promote more effective aeration of the lungs.

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