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Article

Skeletal muscle involvement in infantile systemic hyalinosis.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2003

Zolkipli Zarazuela, Longman Cheryl, Brown Sue, Rahman Nazneen, Holder S E, Muntoni Francesco

Abstract excerpt

Infantile Systemic Hyalinosis is a rare autosomal recessive entity, characterised by deposition of hyaline material in skin and bone, often complicated by visceral involvement. The characteristic features are marked delay in motor milestones attributed to severe progressive flexion contractures o...

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Identifiers

PMID: 14623219
DOI: 10.1016/s1090-3798(03)00109-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14623219-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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