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 (HSPG2), which encodes the core basement membrane protein perlecan. Myotonia is a major criterion for the diagnosis of SJS; however, its evaluation is based solely...

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Detalles Bibliográficos
Autores principales: Yamashita, Yuri, Nakada, Satoshi, Nakamura, Kyoko, Sakurai, Hidetoshi, Ohno, Kinji, Goto, Tomohide, Mabuchi, Yo, Akazawa, Chihiro, Hattori, Nobutaka, Arikawa-Hirasawa, Eri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10045278/
https://www.ncbi.nlm.nih.gov/pubmed/36979792
http://dx.doi.org/10.3390/biomedicines11030814

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