CareLit · DOI-Nachweis · Aktuelle Neurologie
Charcot-Marie-Tooth polyneuropathy type 2A related to a mitofusin 2 gene mutation presenting as severe early-onset axonal polyneuropathy
DOI 10.1055/s-2006-953303
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Nachweis in CareLit
Autor:innenC. Neusch, J. Senderek, M. Bähr, C. Schneider-Gold
ZeitschriftAktuelle Neurologie
Ausgabe09/2006
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Introduction: CMT polyneuropathies are inherited slowly progressive disorders of the peripheral nerve with variable age at onset and variable severity. To date, in CMT2 (A-F) mutations in at least five different genes and three additional chromosomal loci have been identified. CMT2A was first shown to be related to mutations in the KIF1B gene. However, recent studies have identified mutations in the gene encoding MF…
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Zitierempfehlung
C. Neusch, J. Senderek, M. Bähr, C. Schneider-Gold (2006) Charcot-Marie-Tooth polyneuropathy type 2A related to a mitofusin 2 gene mutation presenting as severe early-onset axonal polyneuropathy. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2006-953303
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