GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
Biancheri
Roberta
R
Zara
Federico
F
Striano
Pasquale
P
Pedemonte
Marina
M
Cassandrini
Denise
D
Stringara
Silvia
S
Manganelli
Fiore
F
Santoro
Lucio
L
Schenone
Angelo
A
Bellone
Emilia
E
Minetti
Carlo
C
D000293:Adolescent; D001120:Arginine / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D019054:Evoked Potentials, Motor / Q000502:physiology; D005260:Female; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics / Q000502:physiology; D011712:Pyramidal Tracts / Q000503:physiopathology*
C118663:GDAP protein; D009419:Nerve Tissue Proteins; D001120:Arginine; D008715:Methionine