Entrevista Entrevista Palestras por peritos e apresentações científicas de médicos e cientistas internacionais Publicado: jul 20, 2020

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