Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia

Neurology

Volumn 54, Issue 6, 2000, Pages 1373-1376

  Carbone, I ^d   Bruno, C ^d   Sotgia, F ^a   Bado, M ^d   Broda, P ^d   Masetti, E ^d   Panella, A ^d   Zara, F ^b   Bricarelli, F Dagna ^b   Cordone, G ^d   Lisanti, M P ^a   Minetti, Carlo ^c  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b GALLIERA HOSPITAL   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d NONE

Author keywords

CAV3 gene HyperCKemia; Caveolin 3

Indexed keywords

CAVEOLIN; CAVEOLIN 3; CREATINE KINASE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DIAGNOSTIC PROCEDURE; DISEASE COURSE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MUSCLE WEAKNESS; PRIORITY JOURNAL; PROTEIN CONTENT;

EID: 17044449846     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.54.6.1373     Document Type: Article

References (10)

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