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Article

Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.

Neuromuscular disorders : NMD - 1 Apr 2018

Durmus Hacer, Shen Xin-Ming, Serdaroglu-Oflazer Piraye, Kara Bulent, Parman-Gulsen Yesim, Ozdemir Coskun, Brengman Joan, Deymeer Feza, Engel Andrew G

Abstract excerpt

Congenital myasthenic syndromes (CMS) are a group of hereditary disorders affecting the neuromuscular junction. Here, we present clinical, electrophysiological and genetic findings of 69 patients from 51 unrelated kinships from Turkey. Genetic tests of 60 patients were performed at Mayo Clinic. Median follow-up time was 9.8 years (range 1-22 years). The most common CMS was primary acetylcholine receptor (AChR)...

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Source

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Identifiers

PMID: 29395675
DOI: 10.1016/j.nmd.2017.11.013
PMCID: PMC5924610

Genes

DOK7
CHRNE
COLQ
GFPT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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