A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease.
Institute of Neurology, Catholic University of Sacred Heart, Largo F. Vito 1, 00168, Rome, Italy, mluigetti@gmail.com.
Marco
M
Luigetti
Gian Maria
GM
Fabrizi
Federica
F
Taioli
Alessandra
A
Del Grande
Mauro
M
Lo Monaco
D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
C118738:LITAF protein, human; D009687:Nuclear Proteins; D014157:Transcription Factors