Genetic Basis
There are two autosomal recessive forms of this disease, childhood-onset and adult-onset. The gene for myophosphorylase, PYGM (muscle-type glycogen phosphorylase gene), is located on chromosome 11q13. According to the most recent publications, 95 different mutations have been reported. The forms of the mutations may vary between ethnic groups. For example, the Arg49Stop mutation is most common in North America and Europe, the R49X mutation is most common in Dutch patients, and the Y84X mutation is most common among central Europeans.
The exact method of protein disruption has been elucidated in certain mutations. For example, R138W is known to disrupt to pyridoxal phosphate binding site.
Read more about this topic: Glycogen Storage Disease Type V
Famous quotes containing the words genetic and/or basis:
“What strikes many twin researchers now is not how much identical twins are alike, but rather how different they are, given the same genetic makeup....Multiples don’t walk around in lockstep, talking in unison, thinking identical thoughts. The bond for normal twins, whether they are identical or fraternal, is based on how they, as individuals who are keenly aware of the differences between them, learn to relate to one another.”
—Pamela Patrick Novotny (20th century)
“The basis of shame is not some personal mistake of ours, but the ignominy, the humiliation we feel that we must be what we are without any choice in the matter, and that this humiliation is seen by everyone.”
—Milan Kundera (b. 1929)