Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

ABSTRACT:

Objective

Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder.

Methods

Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathological and imaging features of these patients.

Results

All patients had prenatal or early onset hypotonia and/or congenital contractures. None had ophthalmoplegia. Scoliosis and respiratory insufficiency typically developed early and progressed rapidly, whereas limb weakness was often slowly progressive, and usually did not prevent independent walking. Cardiac involvement was present in 4

SUBMITTER: Oates EC 

PROVIDER: S-EPMC6105519 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature