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Article

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.

American journal of human genetics - 1 May 2002

Arikawa-Hirasawa Eri, Le Alexander H, Nishino Ichizo, Nonaka Ikuya, Ho Nicola C, Francomano Clair A, Govindraj Prasanthi, Hassell John R, Devaney Joseph M, Spranger Jürgen, Stevenson Roger E, Iannaccone Susan, Dalakas Marinos C, Yamada Yoshihiko

Abstract excerpt

Perlecan, a large heparan sulfate proteoglycan, is a component of the basement membrane and other extracellular matrices and has been implicated in multiple biological functions. Mutations in the perlecan gene (HSPG2) cause two classes of skeletal disorders: the relatively mild Schwartz-Jampel sy...

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Identifiers

PMID: 11941538
DOI: 10.1086/340390
PMCID: PMC447613

Genes

HSPG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11941538-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.PMID 11941538Read ↗

Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.Semantic proximity Read ↗

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).Semantic proximity Read ↗

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Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.Semantic proximity Read ↗

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Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing.Semantic proximity Read ↗

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A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking.Semantic proximity Read ↗

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