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.

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