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Next-generation sequencing: limitations in the diagnosis of neuromuscular diseases

Prof. Abrams provides an overview of next-generation sequencing, focusing on challenges for the diagnosis of genetic neuromuscular conditions.

Dr Abrams is / was a consultant / advisor for Atheneum Partners, Guidepoint network and Stealth BioTherapeutics.

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Genetics Neuromuscular next-generation sequencing ALS SMN1 gene SMN2 gene whole exome sequencing whole-genome sequencing Myotonic Dystrophy spinal bulbar muscular atrophy CMT1A c9orf72 mutation Facioscapulohumeral muscular dystrophy Oculopharyngeal muscular dystrophy Chronic progressive external ophthalmoplegia (CPEO) Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) Hereditary neuropathy with liability to pressure palsy (HNPP) Myoclonic epilepsy with ragged-red fibers (MERRF) Neuropathy ataxia and retinitis pigmentosa (NARP)