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Article

King-Denborough Syndrome-Dysmorphic Features Suggesting Risk of Malignant Hyperthermia.

Journal of mother and child - 1 Jan 2026

Nowakowski Piotr, Czeczko Karolina, Potulska-Chromik Anna, Żelewska Justyna, Jastrzębska Aleksandra, Wójcicka Anna, Gaj Paweł, Kostera-Pruszczyk Anna

Abstract excerpt

BACKGROUND: King-Denborough syndrome is a rare disorder within the spectrum of RYR1-related myopathies. It is a congenital myopathy, with characteristic dysmorphic features, and susceptibility to malignant hyperthermia. Early recognition is clinically important because the diagnosis may affect anesthetic management and perioperative safety. CASE PRESENTATION: We report a 4.5-year-old boy with delayed motor...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42370449
DOI: 10.34763/jmotherandchild.20263001.d-26-00012
PMCID: PMC13312338

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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