Novel TTN mutations and muscle imaging characteristics in congenital titinopathy.

ABSTRACT:

Objective

We present clinical features, muscle imaging findings, and genetic characteristics of five unrelated Chinese patients with congenital titinopathy, emphasizing the diagnostic role of muscle MRI.

Methods

Five patients who recessive titinopathies were recruited. All patients received muscle biopsies. Mutations were detected by panel massively parallel sequencing and confirmed by Sanger sequencing. Western blotting of muscle proteins was performed. Leg muscle MRIs were performed in four patients.

Results

Four patients aged 1-4 years old showed delayed motor development from early infancy, while a 17-year-old boy showed only a 1-year history of exercise intolerance. Physical examination showed proximal weakness in three patients. Muscle biopsies demonstrated mult

SUBMITTER: Yu M 

PROVIDER: S-EPMC6649615 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature