A Novel Missense Mutation in <i>AFG3L2</i> Associated with Late Onset and Slow Progression of Spinocerebellar Ataxia Type 28 - Forschungsportal der Justus-Liebig-Universität Gießen:

Journalartikel

A Novel Missense Mutation in AFG3L2 Associated with Late Onset and Slow Progression of Spinocerebellar Ataxia Type 28

Autorenliste: Loebbe, Anna Mareike; Kang, Jun-Suk; Hilker, Ruediger; Hackstein, Holger; Mueller, Ulrich; Nolte, Dagmar

Jahr der Veröffentlichung: 2014

Seiten: 493-496

Zeitschrift: Journal of Molecular Neuroscience

Bandnummer: 52

Heftnummer: 4

ISSN: 0895-8696

eISSN: 1559-1166

DOI Link: https://doi.org/10.1007/s12031-013-0187-1

Verlag: Springer

Abstract:
SCA28 is caused by mutations in the AFG3L2 gene. This gene encodes a subunit of the mitochondrial metalloprotease AFG3L2 (AFG3-like protein 2). Clinical features of SCA28 include slow to moderate progressive ataxia, dysarthria, and additional symptoms such as nystagmus, slow saccades, and increased deep tendon reflexes. Here, we report on a novel AFG3L2 mutation in a patient with slowly progressive ataxia and a positive family history. The nucleotide change results in the substitution of an evolutionarily highly conserved tyrosine by histidine (p.Y689H) in the M41 peptidase domain of AFG3L2.

Zitierstile

Harvard-Zitierstil: Loebbe, A., Kang, J., Hilker, R., Hackstein, H., Mueller, U. and Nolte, D. (2014) A Novel Missense Mutation in AFG3L2 Associated with Late Onset and Slow Progression of Spinocerebellar Ataxia Type 28, Journal of Molecular Neuroscience, 52(4), pp. 493-496. https://doi.org/10.1007/s12031-013-0187-1

APA-Zitierstil: Loebbe, A., Kang, J., Hilker, R., Hackstein, H., Mueller, U., & Nolte, D. (2014). A Novel Missense Mutation in AFG3L2 Associated with Late Onset and Slow Progression of Spinocerebellar Ataxia Type 28. Journal of Molecular Neuroscience. 52(4), 493-496. https://doi.org/10.1007/s12031-013-0187-1

Zitierstile

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