Article
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
Archives of neurology - 1 Dec 2009
Calvo Judith, Funalot Benoît, Ouvrier Robert A, Lazaro Leila, Toutain Annick, De Mas Philippe, Bouche Pierre, Gilbert-Dussardier Brigitte, Arne-Bes Marie-Christine, Carrière Jean-Pierre, Journel Hubert, Minot-Myhie Marie-Christine, Guillou Claire, Ghorab Karima, Magy Laurent, Sturtz Franck, Vallat Jean-Michel, Magdelaine Corinne
Abstract excerpt
BACKGROUND: Mutations in the gene encoding mitofusin 2 (MFN2) cause Charcot-Marie-Tooth disease type 2 (CMT2), with heterogeneity concerning severity and associated clinical features. OBJECTIVE: To describe MFN2 mutations and associated phenotypes in patients with hereditary motor and sensory neuropathy (HMSN). DESIGN: Direct sequencing of the MFN2 gene and clinical investigations of patients with MFN2 mutations....
Topics
- Adolescent
- Adult
- Aged
- Charcot-Marie-Tooth Disease
- Child
- Child, Preschool
- Female
- GTP Phosphohydrolases
- Genes, Dominant