Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

ABSTRACT:

Background

Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each of these disease groups, in many cases a specific genetic diagnosis remains elusive. Due to the emergence of next generation sequencing, virtually the entire coding region of an individual's DNA can now be analysed through "whole" exome sequencing, enabling almost all known and novel disease genes to be investigated for disorders such as these.

Methods

Genomic DNA samples from 45 patients with fetal akinesia/hypokinesia, arthrogryposis or severe congenital myopathies from 38 unrelated families were subjected to next generation sequencing. Clinical features and

SUBMITTER: Todd EJ 

PROVIDER: S-EPMC4650299 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature