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Article

Myasthenic syndrome caused by plectinopathy.

Neurology - 25 Jan 2011

Selcen D, Juel V C, Hobson-Webb L D, Smith E C, Stickler D E, Bite A V, Ohno K, Engel A G

Abstract excerpt

BACKGROUND: Plectin crosslinks intermediate filaments to their targets in different tissues. Defects in plectin cause epidermolysis bullosa simplex (EBS), muscular dystrophy (MD), and sometimes pyloric atresia. Association of EBS with a myasthenic syndrome (MyS) was documented in a single patient in 1999. OBJECTIVES: To analyze the clinical, structural, and genetic aspects of a second and fatal case of EBS...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21263134
DOI: 10.1212/WNL.0b013e31820882bd
PMCID: PMC3034415

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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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