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

Movement Disorders

Volumn 15, Issue 6, 2000, Pages 1282-1284

  Dotti, Maria Teresa ^a   Battisti, Carla ^a   Malandrini, Alessandro ^a   Federico, Antonio ^a,e   Rubio, Justin P ^b   Circiarello, Giuseppe ^c   Monaco, Anthony P ^d  

^a UNIVERSITY OF SIENA   (Italy)

^b ROYAL MELBOURNE HOSPITAL   (Australia)

^c SANTA MARIA ANNUNZIATA HOSPITAL   (Italy)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e UNIVERSITY HOSPITAL OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

(3 IODOBENZYL)GUANIDINE I 123; ALANINE AMINOTRANSFERASE; ALPHA TOCOPHEROL; APOLIPOPROTEIN A; APOLIPOPROTEIN B; ARGININE; ASPARTATE AMINOTRANSFERASE; CERULOPLASMIN; COPPER; CYTOSINE; DNA; FLUORODEOXYGLUCOSE F 18; GUANINE; LYSOZYME; NEUROLEPTIC AGENT; TETRABENAZINE; THYMINE; THYROID HORMONE;

ACANTHOCYTOSIS; ADULT; ANXIETY NEUROSIS; AREFLEXIA; ARTICLE; BRAIN SCINTISCANNING; CASE REPORT; CHROMOSOME 9Q; CLINICAL FEATURE; COMORBIDITY; DISEASE ASSOCIATION; DYSTONIA; ELECTROCARDIOGRAM; ELECTROMYOGRAM; GENE MUTATION; HUMAN; HYPERTRANSLUCENT LUNG; INVOLUNTARY MOVEMENT; MALE; MOTOR DYSFUNCTION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NERVE DEGENERATION; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; OBSESSION; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

CHOREATIC DISORDERS; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MOVEMENT DISORDERS; POINT MUTATION; SEVERITY OF ILLNESS INDEX; SYNDROME; X CHROMOSOME;

EID: 0033724399     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8257(200011)15:6<1282::AID-MDS1042>3.0.CO;2-2     Document Type: Article

References (15)

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3. McLeod syndrome: A distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations
4. Atypical McLeod syndrome manifesting as X-linked chorea-acanthocytosis, neuro-myopathy and dilated cardiomyopathy: Report of a family
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6. A novel point mutation in the McLeod syndrome gene in neuroac-anthocytosis
7. A family of McLeod syndrome, masquerading as chorea-acanthocytosis
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15. A case of McLeod syndrome with unusually severe myopathy