Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease.
Pareyson
D
D
Istituto Nazionale Neurologico C. Besta, Milan, Italy. dpareys@tin.it
Menichella
D
D
Botti
S
S
Sghirlanzoni
A
A
Fallica
E
E
Mora
M
M
Ciano
C
C
Shy
M E
ME
Taroni
F
F
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D018388:Codon, Terminator; D003241:Consanguinity; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D008297:Male; D018993:Myelin P0 Protein / Q000235:genetics*; D009431:Neural Conduction; D010375:Pedigree; D017384:Sequence Deletion; D013497:Sural Nerve / Q000473:pathology
D018388:Codon, Terminator; D018993:Myelin P0 Protein