McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.
Dotti
M T
MT
Unit of Metabolic Diseases, Institute of Neurological Sciences, University of Siena, Italy.
Battisti
C
C
Malandrini
A
A
Federico
A
A
Rubio
J P
JP
Circiarello
G
G
Monaco
A P
AP
D002819:Chorea / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000235:genetics*; D017354:Point Mutation; D012720:Severity of Illness Index; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics*