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

Todd E. J., Yau K. S., Ong R., Slee J., McGillivray G., Barnett C. P., ...More

ORPHANET JOURNAL OF RARE DISEASES, vol.10, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 10
  • Publication Date: 2015
  • Doi Number: 10.1186/s13023-015-0364-0
  • Journal Name: ORPHANET JOURNAL OF RARE DISEASES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: Fetal hypokinesia, Arthrogryposis, Next generation sequencing, Congenital myopathy, Nemaline myopathy, ARTHROGRYPOSIS MULTIPLEX CONGENITA, FETAL AKINESIA, ACETYLCHOLINE-RECEPTOR, MYASTHENIC SYNDROME, NEMALINE MYOPATHY, NEBULIN GENE, CLINICAL-FEATURES, MUTATION CAUSES, PHENOTYPE, SUBUNIT
  • Hacettepe University Affiliated: Yes

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.