Early clinical heterogeneity in choreoacanthocytosis

Archives of Neurology

Volumn 62, Issue 4, 2005, Pages 611-614

  Lossos, Alexander ^a   Dobson Stone, Carol ^f   Monaco, Anthony P ^f   Soffer, Dov ^a   Rahamim, Ezra ^b   Newman, J P ^a   Mohiddin, Saidi ^g   Fananapazir, Lameh ^g   Lerer, Israela ^a   Linetsky, Eduard ^a   Reches, Avinoam ^a   Argov, Zohar ^a   Abramsky, Oded ^a   Gadoth, Natan ^c,d   Sadeh, Menachem ^e   Gomori, John M ^a   Boher, Moshe ^a   Meiner, Vardiella ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b HEBREW UNIVERSITY   (Israel)

^c MEIR MEDICAL CENTER   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

^e WOLFSON MEDICAL CENTER   (Israel)

^f UNIVERSITY OF OXFORD   (United Kingdom)

^g NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE;

ACANTHOCYTOSIS; ADULT; ANAMNESIS; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CHOREOACANTHOCYTOSIS; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; EXON; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; HYPOREFLEXIA; IDIOPATHIC DISEASE; IDIOPATHIC HYPERCKEMIA; JEW; MALE; PRIORITY JOURNAL; TRICHOTILLOMANIA; VPS13A GENE;

ADULT; AGE OF ONSET; CHOREATIC DISORDERS; CHROMOSOMES, HUMAN, PAIR 9; DIAGNOSTIC ERRORS; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HOMOZYGOTE; HUMANS; MALE; MUSCLE, SKELETAL; MUTATION; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PROTEINS; VESICULAR TRANSPORT PROTEINS;

EID: 20144389252     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.62.4.611     Document Type: Article

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