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

Title

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

Creator

Das Alvin S; Agamanolis Dimitri P; Cohen Bruce H

Publisher

Pediatric neurology

Date

2014
2014-11

Description

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

Subject

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

Rights

Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).

Pages

717–720

Issue

5

Volume

51

Citation

Das Alvin S; Agamanolis Dimitri P; Cohen Bruce H, “Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.,” NEOMED Bibliography Database, accessed May 17, 2021, https://neomed.omeka.net/items/show/3767.

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