Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation.

Mario Sabatelli, Marco Luigetti, Amelia Conte, Alessandra Del Grande, G. M. Fabrizi, F. Taioli

Risultato della ricerca: Contributo in rivistaArticolo in rivista

8 Citazioni (Scopus)

Abstract

Mutations in the gene encoding mitofusin 2 (MFN2) are responsible of about 20% of Charcot-Marie-Tooth disease type 2 (CMT2) case. A great variability exists among CMT2A concerning severity and associated clinical features. Generally patients with an early onset CMT2A disclose a severe phenotype while the cases with a late onset present a more benign clinical course. We describe clinical, electrophysiological and pathological findings of a patient with a mild CMT2A due to the c.2213C>T, p.Ala738Val MFN2 mutation. This mutation has been already described to be only associated with an early onset and moderately severe CMT2A phenotype.
Lingua originaleEnglish
pagine (da-a)168-170
Numero di pagine3
RivistaJournal of the Neurological Sciences
Volume2011
Stato di pubblicazionePubblicato - 2011

Keywords

  • CMT
  • MFN2

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