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Article

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

Pediatric neurology - 1 Nov 2014

Das Alvin S, Agamanolis Dimitri P, Cohen Bruce H

Abstract excerpt

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 20-month-old boy with rapsyn deficiency. At birth, he presented with a weak cry, hypotonia, joint...

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Source

Identifiers

PMID: 25194721
DOI: 10.1016/j.pediatrneurol.2014.07.032

Genes

RAPSN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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