Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis

@article{Maselli2003CholineAM,
  title={Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis},
  author={Ricardo A Maselli and Da Guang Chen and Delores Mo and Constance M. Bowe and Grace Fenton and Robert L. Wollmann},
  journal={Muscle \& Nerve},
  year={2003},
  volume={27}
}
The myasthenic syndrome due to abnormal acetylcholine resynthesis is characterized by early onset, recessive inheritance, and recurrent episodes of potentially fatal apnea. Mutations in the gene encoding choline acetyltransferase (CHAT) have been found to account for this condition. We have identified five patients from three independent families with features of this disease including, in four patients, a paradoxical worsening of symptoms with cold temperatures. Electrodiagnostic studies… 
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60 Citations

Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype–Phenotype Correlations

The characterization of mutants showed a decrease in the overall catalytic efficiency of ChAT; in particular, those located near the active‐site tunnel produced the most seriously disruptive phenotypic effects.

What Have We Learned from the Congenital Myasthenic Syndromes

After a series of patients carrying mutations in a disease gene have been identified, the emerging genotype–phenotype correlations provided clues for targeted mutation analysis in other patients.

Congenital Myasthenic Syndrome Caused by a Novel Hemizygous CHAT Mutation

The alignment of amino acid sequences revealed that glutamine at codon 659 is highly conserved in different species and causes structural changes in the substrate-binding site, which may help to further elucidate clinical features and treatment methods in neonate-onset CMS caused by CHAT gene mutations.

Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review.

The genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date are described and appropriate treatment can improve morbidity and mortality.

A Common CHAT Gene Mutation of Congenital Myasthenic Syndrome Found in Kadazandusun Children

The diagnostic odyssey of three CMS patients from two unrelated Kadazandusun kinships and their follow-up treatment is presented, and it is postulate that p.Val306Leu may be a founder mutation in the Kadaz andusuns, an indigenous ethnic minority of Borneo Island.

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

Chapter 99 – Congenital Myasthenic Syndromes

A multidimensional computational exploration of congenital myasthenic syndrome causing mutations in human choline acetyltransferase

This study systematically sift through the available genetic data in search of previously unreported pathogenic mutations and uses a dynamic in silico model to provide structural explanations for the pathogenicity of the reported deleterious and undetermined variants.

Current status of the congenital myasthenic syndromes

  • A. Engel
  • Biology, Medicine
    Neuromuscular Disorders
  • 2012

Congenital myasthenic syndromes

...

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