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Article

Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.

Neurology - 26 Feb 2002

Shapira Y A, Sadeh M E, Bergtraum M P, Tsujino A, Ohno K, Shen X M, Brengman J, Edwardson S, Matoth I, Engel A G

Abstract excerpt

OBJECTIVE: To determine the molecular basis and consequences of endplate (EP) acetylcholinesterase (AChE) deficiency. BACKGROUND: The EP species AChE is an asymmetric enzyme consisting of a tail subunit composed of three collagenic strands (ColQ), each attached to a tetramer of catalytic subunits. The tail subunit is essential for insertion of AChE into the synaptic basal lamina. Human EP AChE deficiency is...

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Identifiers

PMID: 11865139
DOI: 10.1212/wnl.58.4.603

Genes

COLQ

Variants

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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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