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

V Valentina Fumini A Alexandru Ionut Gilea E Elena Tacchetto L Leonardo Salviati E Enrico Baruffini M Mara Doimo

Article Details

Volume / Issue Vol. 16, Issue 1
Published March 20, 2026
ISSN 2045-2322
Publisher Nature Portfolio

Journal Info

Scientific Reports

Nature Portfolio

ISSN: 2045-2322 Open Access Life Sciences

Authors (6)

V

Valentina Fumini

A

Alexandru Ionut Gilea

E

Elena Tacchetto

L

Leonardo Salviati

E

Enrico Baruffini

M

Mara Doimo