Biallelic Truncating Variants in Children with Titinopathy Represent a Recognizable Condition with Distinctive Muscular and Cardiac Characteristics: a Report on Five Patients.

Anwar Baban,Marianna Cicenia,Monia Magliozzi,Giovanni Parlapiano,Marco Cirillo,Giulia Pascolini,Fabiana Fattori,Maria Gnazzo, Pasqualina Bruno, Lorenzo De Luca,Luca Di Chiara,Paola Francalanci,Bjarne Udd,Aurelio Secinaro,Antonio Amodeo,Enrico Silvio Bertini,Marco Savarese,Fabrizio Drago,Antonio Novelli

Frontiers in Cardiovascular Medicine（2023）

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关键词

titinopathy,titin (TTN),truncating variant,dilated cardiomyopathy,neuromuscular disease,heart failure,children

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