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Article

Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.

European journal of human genetics : EJHG - 1 Apr 2025

Schoonen Maryke, Fassad Mahmoud, Patel Krutik, Bisschoff Michelle, Vorster Armand, Makwikwi Tendai, Human Ronel, Lubbe Elsa, Nonyane Malebo, Vorster Barend C, Vandrovcova Jana, Hanna Michael G, Taylor Robert W, McFarland Robert, Wilson Lindsay A, van der Westhuizen Francois H, Smuts Izelle

Abstract excerpt

King-Denborough Syndrome (KDS) is a congenital myopathy (CM) characterised by myopathy, dysmorphic features and susceptibility to malignant hyperthermia. The objective of this study was to investigate the genotype-phenotype correlation in Black African patients presenting with CM, specifically those with KDS-like phenotypes, who remained undiagnosed for over 25 years. A cohort of 67 Black African patients with CM...

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Source

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Identifiers

PMID: 39966651
DOI: 10.1038/s41431-025-01795-z
PMCID: PMC11985997

Genes

RYR1
STAC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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