A Novel Pathogenic HSPG2 Mutation in Schwartz–Jampel Syndrome

A Novel Pathogenic HSPG2 Mutation in Schwartz–Jampel Syndrome

Schwartz–Jampel syndrome is a rare autosomal recessive disease caused by mutation in the heparan sulfate proteoglycan 2 (HSPG2) gene. Its cardinal symptoms are skeletal dysplasia and neuromuscular hyperactivity. Herein, we identified a new pathogenic mutation site (NM_005529.6:c.1125C>G; p.Cy...

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Bibliographic Details
Main Authors: Po-Yu Lin, Jia-Horung Hung, Chao-Kai Hsu, Yao-Tsung Chang, Yuan-Ting Sun
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Neurology
Subjects:
Schwartz–Jampel syndrome
heparan sulfate proteoglycan 2
perlecan
short exercise test
primary fibroblast
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.632336/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.632336/full

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