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Article

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

BMC medical genetics - 29 Sept 2020

Giucă Adrian, Mitu Cristina, Popescu Bogdan Ovidiu, Bastian Alexandra Eugenia, Capşa Răzvan, Mursă Adriana, Rădoi Viorica, Popescu Bogdan Alexandru, Jurcuţ Ruxandra

Abstract excerpt

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 gene encodes four-and-a-half LIM domains 1 proteins which are involved in sarcomere formation, assembly and biomechanical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32993534
DOI: 10.1186/s12881-020-01131-w
PMCID: PMC7525989

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