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
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