Progressive cognitive impairment and ventricular tachycardia in a boy with biallelic POLG variants and a de novo RYR2 variation

Abstract Routine use of next-generation sequencing has shown that most common phenotypes are genetically heterogeneous and that in many cases, mutations in the same gene may cause markedly different phenotypes. Furthermore, complex clinical presentations are often due to multiple coexisting genetic...

תיאור מלא

מידע ביבליוגרפי

Principais autores:	Valentina Fumini, Alexandru Ionut Gilea, Elena Tacchetto, Leonardo Salviati, Enrico Baruffini, Mara Doimo
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Nature Portfolio 2026-03-01
סדרה:	Scientific Reports
נושאים:	Neurodevelopmental disorder POLG POLG-related disorder RYR2 supraventricular tachyarrhythmias yeast model
גישה מקוונת:	https://doi.org/10.1038/s41598-026-44913-7
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!