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

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

Das Alvin S; Agamanolis Dimitri P; Cohen Bruce H

Pediatric neurology

2014

2014-11

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 decisions present clinical challenges. PATIENT DESCRIPTION: We report a

congenital myasthenic syndrome; Congenital/*genetics/therapy; Continuous Positive Airway Pressure/methods; Humans; Infant; Male; Muscle Proteins/*genetics; Mutation/*genetics; Myasthenic Syndromes; next-generation sequencing; pyridostigmine; rapsyn

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717–720

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