Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data.

ABSTRACT:

Introduction

Comprehensive genetic testing for dystrophinopathy can detect ∼95% of pathogenic variants in the dystrophin gene (DMD) and is often the preferred diagnostic approach.

Methods

We reviewed pathology reports for muscle biopsies evaluated at the University of Iowa with a pathological diagnosis of dystrophinopathy based on dystrophic histopathology and abnormal immunofluorescence staining: reduced to absent dystrophin, expression of utrophin, and loss of neuronal nitric oxide synthase.

Results

The percentage of muscle biopsies with dystrophinopathy has been stable since 1997. Among 2,298 biopsies evaluated between 2011 and 2016, 72 (3.1%) had pathologic features of dystrophinopathy. Median age at biopsy was 8 years (range, 0.66-84). Half had undergone DMD gene

SUBMITTER: Carlson CR 

PROVIDER: S-EPMC6057846 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature