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Article

A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells.

Scientific reports - 18 Oct 2017

Yoshida Takeshi, Awaya Tomonari, Jonouchi Tatsuya, Kimura Ryo, Kimura Shigemi, Era Takumi, Heike Toshio, Sakurai Hidetoshi

Abstract excerpt

Pompe disease is caused by an inborn defect of lysosomal acid α-glucosidase (GAA) and is characterized by lysosomal glycogen accumulation primarily in the skeletal muscle and heart. Patients with the severe type of the disease, infantile-onset Pompe disease (IOPD), show generalized muscle weakness and heart failure in early infancy. They cannot survive over two years. Enzyme replacement therapy with recombinant...

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Identifiers

PMID: 29044175
DOI: 10.1038/s41598-017-14063-y
PMCID: PMC5647434

Genes

GAA

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