Diagnostic NGS for Severe Neuromuscular Disorders

Investigators from the University of Western Australia report the diagnostic yield of performing next generation sequencing (NGS; whole exome and targeted capture of 277 neuromuscular genes) in a heterogenous cohort of patients with neuromuscular disorders (NMD) presenting at or before birth.

Detalles Bibliográficos
Autores principales: Dhamija, Radhika, Chambers, Chelsea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pediatric Neurology Briefs Publishers 2015
Materias:
Neuromuscular Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747264/
https://www.ncbi.nlm.nih.gov/pubmed/26933539
http://dx.doi.org/10.15844/pedneurbriefs-29-11-1
Descripción
Sumario:Investigators from the University of Western Australia report the diagnostic yield of performing next generation sequencing (NGS; whole exome and targeted capture of 277 neuromuscular genes) in a heterogenous cohort of patients with neuromuscular disorders (NMD) presenting at or before birth.

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