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

• Main Authors: Adrian Giucă (Author), Cristina Mitu (Author), Bogdan Ovidiu Popescu (Author), Alexandra Eugenia Bastian (Author), Răzvan Capşa (Author), Adriana Mursă (Author), Viorica Rădoi (Author), Bogdan Alexandru Popescu (Author), Ruxandra Jurcuţ (Author)
• Format: Book
• Published: BMC, 2020-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 2008 in an American-Italian family with scapuloperoneal myopathy, FHL1...