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

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 en...

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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:BMC Med Genet
Main Authors: Giucă, Adrian, Mitu, Cristina, Popescu, Bogdan Ovidiu, Bastian, Alexandra Eugenia, Capşa, Răzvan, Mursă, Adriana, Rădoi, Viorica, Popescu, Bogdan Alexandru, Jurcuţ, Ruxandra
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2020
נושאים:
Case Report
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC7525989/
https://ncbi.nlm.nih.gov/pubmed/32993534
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01131-w
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