Dominant PYGM mutation resulting in a new glycogen storage disease

Takeaway

  • The authors identified a novel dominant glycogen storage disease (GSD) in humans.

  • This GSD results from a mutation in the PYGM gene, causing reduced myophosphorylase activity leading to glycogen accumulation in muscle tissue.

Why this matters ?

    To date, approximately 15 types of GSD have been described, all of which have been autosomal recessive or X-linked traits. This study presents the first GSD caused by a dominant missense mutation in PYGM, which differed in presentation from McArdle disease, caused by a recessive PYGM mutation.