Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.
Zhu
D
D
ANZAC Research Institute, University of Sydney, Concord Hospital, NSW, Australia. danqing@med.usyd.edu.au
Kennerson
M L
ML
Walizada
G
G
Züchner
S
S
Vance
J M
JM
Nicholson
G A
GA
D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020558:GTP Phosphohydrolases; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006801:Humans; D016547:Kinesins / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D009069:Movement Disorders / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011712:Pyramidal Tracts / Q000473:pathology / Q000503:physiopathology
C091053:KIF1B protein, human; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009419:Nerve Tissue Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human; D016547:Kinesins