Evaluation of Human-Induced Pluripotent Stem Cells Derived from a Patient with Schwartz–Jampel Syndrome Revealed Distinct Hyperexcitability in the Skeletal Muscles

Evaluation of Human-Induced Pluripotent Stem Cells Derived from a Patient with Schwartz–Jampel Syndrome Revealed Distinct Hyperexcitability in the Skeletal Muscles

Schwartz–Jampel syndrome (SJS) is an autosomal recessive disorder caused by loss-of-function mutations in heparan sulfate proteoglycan 2 (<i>HSPG2</i>), which encodes the core basement membrane protein perlecan. Myotonia is a major criterion for the diagnosis of SJS; however, its evaluat...

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Bibliographic Details
Main Authors: Yuri Yamashita, Satoshi Nakada, Kyoko Nakamura, Hidetoshi Sakurai, Kinji Ohno, Tomohide Goto, Yo Mabuchi, Chihiro Akazawa, Nobutaka Hattori, Eri Arikawa-Hirasawa
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Biomedicines
Subjects:
Schwartz–Jampel syndrome
skeletal muscle
myotonia
perlecan
human-induced pluripotent stem cell
calcium imaging
Online Access:https://www.mdpi.com/2227-9059/11/3/814

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https://www.mdpi.com/2227-9059/11/3/814

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