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

doi:10.1212/wnl.58.4.603

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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...

Topics

Acetylcholinesterase
Action Potentials
Adolescent
Adult
Amino Acid Substitution
Animals
COS Cells
Child
Child, Preschool
Collagen
Female
Genetic Variation
Glycine
Humans
Male

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Motor Endplate

Muscle Proteins

Source

Open in PubMed

Identifiers

PMID: 11865139
DOI: 10.1212/wnl.58.4.603

Genes

COLQ

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.