Why the study?
Recent advances confirmed the substantial impact of the titin gene on muscle disease and cardiomyopathy, but the huge gene size previously hindered whole-gene sequencing, warranting an updated review of advances in diagnosing titinopathies.
Design
Review
Authors
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Supports TTN sequencing in cardiomyopathy evaluation; leaves open prospective outcome studies.
High-throughput sequencing of the TTN gene has revolutionized the diagnosis of titinopathies, allowing for better prognostic assessment and targeted management of associated cardiomyopathies.
Bjarne Udd (2020) studied this question.
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