Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

ABSTRACT:

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 possibly disease-causing variants in TTN were identified. Titin mutations were detected through targeted resequencing performed on DNA from 504 patients with muscular dystrophy, congenital myopathy, or other skeletal muscle disorders. Patients were enrolled from 10 clinical centers in April 2012 to December 2013. All of them had not received a diagnosis after undergoing

SUBMITTER: Savarese M 

PROVIDER: S-EPMC5885217 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature