Variants
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Glycogen storage disease XV

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Description

Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.

ORDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

31

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Genes

External Links

  • OMIM

    613507

  • Orphanet

    263297

  • HPO
  • Medgen

    C3150754

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