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Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.

Neuromuscular disorders : NMD - 1 Jun 2023

Ghaoui Roula, Ha Thuong T, Kerkhof Jennifer, McConkey Haley, Gao Song, Babic Milena, King Rob, Ravenscroft Gianina, Koszyca Barbara, Otto Sophia, Laing Nigel G, Scott Hamish, Sadikovic Bekim, Kassahn Karin S

Abstract excerpt

Pathogenic variants in DNMT3A are most commonly associated with Tatton-Brown-Rahman Syndrome (TBRS), but includes other phenotypes such as Heyn-Sproul-Jackson syndrome and acute myeloid leukemia (AML). We describe a patient presenting to the neuromuscular clinic with a de novo missense variant in DNMT3A where the striking clinical feature is that of a congenital myopathy with associated episodes of...

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Identifiers

PMID: 37209493
DOI: 10.1016/j.nmd.2023.04.002

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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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