CareLit · DOI-Nachweis · Aktuelle Neurologie
Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis
DOI 10.1055/s-0028-1086662
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Autor:innenC Münch, A Rolfs, T Meyer
ZeitschriftAktuelle Neurologie
Ausgabe09/2008
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Background: Amyotrophic lateral sclerosis (ALS) is a clinically and genetically heterogeneous group of disorders affecting the upper and lower motor neurons. Mutations in the spastin gene represent the most common cause of dominantly inherited hereditary spastic paraplegia (HSP). The majority of patients with spastin mutations develop uncomplicated HSP, but additional features are common. Here we report a patient wi…
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Zitierempfehlung
C Münch, A Rolfs, T Meyer (2008) Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis. Aktuelle Neurologie (09). https://doi.org/10.1055/s-0028-1086662
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