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

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

Neuromuscular Disorders（2023）

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摘要

•Expanding the phenotype of DNMT3A associated with Tatton-Brown Syndrome (TBRS) to cause a congenital myopathy.•DNMT3A is associated with episodes of rhabdomyolysis and myalgias.•DNA methylation profile matching other haploinsufficient TBRS cases, consistent with the loss of methyltransferase activity, provides functional evidence for variant pathogenicity.

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