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Article

[The Schwartz-Jampel syndrome].

Medecine sciences : M/S - 1 Nov 2023

Urtizberea J Andoni, Severa Gianmarco, Ropars Juliette, Malfatti Edoardo

Abstract excerpt

The Schwartz-Jampel syndrome (SJS, OMIM #255800) is an ultra-rare genetic disease characterized by myotonic manifestations combined with bone and cartilage abnormalities. Following an autosomal recessive mode of inheritance, its prevalence is more significant in highly-inbred areas. The unraveling of the HSPG2 gene encoding a protein of the basal lamina enabled a better nosological delineation of the syndrome....

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PMID: 37975769
DOI: 10.1051/medsci/2023133

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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