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Tags: Muscle Proteins/*genetics

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Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.

BACKGROUND: The clinical presentation of congenital myasthenic syndromes is similar to many other neuromuscular disorders of infancy, and with 12 known discrete genetic forms of congenital myasthenic syndromes, both the diagnosis and treatment…

Tags: 2014, Agamanolis Dimitri P, Cohen Bruce H, congenital myasthenic syndrome, Congenital/*genetics/therapy, Continuous Positive Airway Pressure/methods, Das Alvin S, Humans, Infant, Male, Muscle Proteins/*genetics, Mutation/*genetics, Myasthenic Syndromes, next-generation sequencing, Pediatric neurology, pyridostigmine, rapsyn

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