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Article

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

Neurology - 15 Aug 2017

Schorling David C, Rost Simone, Lefeber Dirk J, Brady Lauren, Müller Clemens R, Korinthenberg Rudolf, Tarnopolsky Mark, Bönnemann Carsten G, Rodenburg Richard J, Bugiani Marianna, Beytia Maria, Krüger Marcus, van der Knaap Marjo, Kirschner Jan

Abstract excerpt

OBJECTIVE: To describe the presentation and identify the cause of a new clinical phenotype, characterized by early severe neurodegeneration with myopathic and myasthenic features. METHODS: This case study of 5 patients from 3 families includes clinical phenotype, serial MRI, electrophysiologic testing, muscle biopsy, and full autopsy. Genetic workup included whole exome sequencing and segregation analysis of the...

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Identifiers

PMID: 28733338
DOI: 10.1212/WNL.0000000000004234
PMCID: PMC5562963

Genes

ALG14

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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