A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
Muglia
M
M
Vazza
G
G
Patitucci
A
A
Milani
M
M
Pareyson
D
D
Taroni
F
F
Quattrone
A
A
Mostacciuolo
M L
ML
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D020558:GTP Phosphohydrolases; D005799:Genes, Dominant; D006580:Genetic Carrier Screening; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D010641:Phenotype
D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human