Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy – a case report

Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders. First described in...

Source: BMC Medical Genetics - September 29, 2020 Category: Genetics & Stem Cells Authors: Adrian Giuc ă, Cristina Mitu, Bogdan Ovidiu Popescu, Alexandra Eugenia Bastian, Răzvan Capşa, Adriana Mursă, Viorica Rădoi, Bogdan Alexandru Popescu and Ruxandra Jurcuţ Tags: Case report Source Type: research