Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity

Abstract Background Pediatric hypertrophic cardiomyopathy (HCM) is a rare condition, particularly in neonates, and is characterized by rapid and extensive myocardial hypertrophy, often leading to severe clinical outcomes. HCM can arise from variants in sarcomeric genes, which are essential for myoca...

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Päätekijät:	Hye-Won Cho, Hyeseon Kim, Jeong-Min Kim, Dong Mun Shin, Oc-Hee Kim, Misun Yang, Heui Seung Jo, Mi-Ae Jang, Ja-Hyun Jang, Hyun-Young Park, Yun Sil Chang, Mi-Hyun Park
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	BMC 2025-07-01
Sarja:	Orphanet Journal of Rare Diseases
Aiheet:	Hypertrophic cardiomyopathy Neonate Mitochondrial gene MYO19 Compound heterozygous variant Oligogenic inheritance
Linkit:	https://doi.org/10.1186/s13023-025-03871-5
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