Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

doi:10.1001/jamaneurol.2017.4899

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Article

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

JAMA neurology - 1 May 2018

Savarese Marco, Maggi Lorenzo, Vihola Anna, Jonson Per Harald, Tasca Giorgio, Ruggiero Lucia, Bello Luca, Magri Francesca, Giugliano Teresa, Torella Annalaura, Evilä Anni, Di Fruscio Giuseppina, Vanakker Olivier, Gibertini Sara, Vercelli Liliana, Ruggieri Alessandra, Antozzi Carlo, Luque Helena, Janssens Sandra, Pasanisi Maria Barbara, Fiorillo Chiara, Raimondi Monika, Ergoli Manuela, Politano Luisa, Bruno Claudio, Rubegni Anna, Pane Marika, Santorelli Filippo M, Minetti Carlo, Angelini Corrado, De Bleecker Jan, Moggio Maurizio, Mongini Tiziana, Comi Giacomo Pietro, Santoro Lucio, Mercuri Eugenio, Pegoraro Elena, Mora Marina, Hackman Peter, Udd Bjarne, Nigro Vincenzo

Abstract excerpt

Importance: Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interpretation of the numerous rare variants identified in TTN is a difficult challenge given its large size. Objective: To identify genetic variants in titin in a cohort of patients with muscle disorders. Design, Setting, and Participants: In this case series, 9 patients with titinopathy and 4 other patients with...

Topics

Adult
Cohort Studies
Connectin
DNA Mutational Analysis
Europe
Female
Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Magnetic Resonance Imaging

Male

Middle Aged

Muscle, Skeletal

Muscular Diseases

Young Adult

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Open in PubMed Open full text

Identifiers

PMID: 29435569
DOI: 10.1001/jamaneurol.2017.4899
PMCID: PMC5885217

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