title: Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT.
authors.affiliation: Biochemistry and Genetics Laboratory, National Centre for Neurodegenerative and Mitochondrial diseases, CHU Angers, 4 rue Larrey, Angers, France.
authors.forename: J
authors.initials: J
authors.lastname: Cassereau
authors.forename: C
authors.initials: C
authors.lastname: Casasnovas
authors.forename: N
authors.initials: N
authors.lastname: Gueguen
authors.forename: M-C
authors.initials: MC
authors.lastname: Malinge
authors.forename: V
authors.initials: V
authors.lastname: Guillet
authors.forename: P
authors.initials: P
authors.lastname: Reynier
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
authors.forename: P
authors.initials: P
authors.lastname: Amati-Bonneau
authors.forename: I
authors.initials: I
authors.lastname: Banchs
authors.forename: V
authors.initials: V
authors.lastname: Volpini
authors.forename: V
authors.initials: V
authors.lastname: Procaccio
authors.forename: A
authors.initials: A
authors.lastname: Chevrollier
mesh_terms: D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020558:GTP Phosphohydrolases; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000209:etiology / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*
chemical_list: C118663:GDAP protein; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009419:Nerve Tissue Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human