CareLit · DOI-Nachweis · Klinische Neurophysiologie
Functional Genetics of Spastin
DOI 10.1055/s-2004-832153
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Autor:innenJ Schickel, C Beetz, M Marx, A Meixner, M Bastmeier, T Deufel
ZeitschriftKlinische Neurophysiologie
Ausgabe08/2004
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Mutations in the human spastin gene (SPG4) cause the most prevalent form of autosomal dominant hereditary spastic paraplegia (HSP), a neurodegenerative disorder characterized by progressive weakness and spasticity of the lower limbs. Human spastin is ubiquitously expressed and encodes a member of the AAA (ATPases associated with various cellular activities) protein family which is characterized by a conserved domain…
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Zitierempfehlung
J Schickel, C Beetz, M Marx, A Meixner, M Bastmeier, T Deufel (2004) Functional Genetics of Spastin. Klinische Neurophysiologie (08). https://doi.org/10.1055/s-2004-832153
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