McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene

Mov Disord. 2000 Nov;15(6):1282-4. doi: 10.1002/1531-8257(200011)15:6<1282::aid-mds1042>3.0.co;2-2.

Authors

M T Dotti¹, C Battisti, A Malandrini, A Federico, J P Rubio, G Circiarello, A P Monaco

Affiliation

¹ Unit of Metabolic Diseases, Institute of Neurological Sciences, University of Siena, Italy.

PMID: 11104227
DOI: 10.1002/1531-8257(200011)15:6<1282::aid-mds1042>3.0.co;2-2

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Chorea / diagnosis
Chorea / genetics*
DNA Mutational Analysis
Diagnosis, Differential
Genetic Linkage / genetics
Humans
Male
Middle Aged
Movement Disorders / genetics*
Point Mutation*
Severity of Illness Index
Syndrome
X Chromosome / genetics*