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Deep intronic FGF14 GAA-repeat expansion in late-onset cerebellar ataxia: Last but not least

M Anheim1

  • 1Service de neurologie, hôpitaux universitaires de Strasbourg, Strasbourg, France; Inserm-U964/CNRS-UMR7104, Institut de génétique et de biologie moléculaire et cellulaire (IGBMC), université de Strasbourg, Illkirch, France; Centre de référence des maladies neurogénétiques rares, Centre Hospitalo-Universitaire de Strasbourg, Strasbourg, France; Fédération de médecine translationnelle de Strasbourg (FMTS), université de Strasbourg, Strasbourg, France.

Revue Neurologique
|March 11, 2023
PubMed
Abstract

No abstract available in PubMed .

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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