COL4A1-related disease: Raised creatine kinase and cerebral calcification as useful pointers

Neuropediatrics

Volumn 43, Issue 5, 2012, Pages 283-288

  Tonduti, Davide ^a   Pichiecchio, Anna ^a   La Piana, Roberta ^b   Livingston, John H ^c   Doherty, Daniel A ^d   Majumdar, Anirban ^e   Tomkins, Susan ^f   Mine, Manuele ^g   Ceroni, Mauro ^a   Ricca, Ivana ^a   Balottin, Umberto ^a,h   Orcesi, Simona ^a  

^a C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^b MCGILL UNIVERSITY   (Canada)

^c LEEDS GENERAL INFIRMARY   (United Kingdom)

^d UNIVERSITY OF WASHINGTON   (United States)

^e BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^f ST MICHAEL'S HOSPITAL   (United Kingdom)

^g HÔPITAL LARIBOISIÈRE   (France)

^h UNIVERSITY OF PAVIA   (Italy)

Author keywords

cataract; cerebral calcification; COL4A1; creatine kinase

Indexed keywords

CREATINE KINASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN CALCIFICATION; BRAIN CYST; BRAIN DISEASE; CASE REPORT; COLLAGEN TYPE 4 ALPHA 1 GENE; COMPUTER ASSISTED TOMOGRAPHY; ELECTROMYOGRAPHY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; KARYOTYPING; KIDNEY FUNCTION TEST; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; MUSCLE BIOPSY; MUSCLE CRAMP; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIVENTRICULAR DISEASE; PRIORITY JOURNAL; WHITE MATTER LESION;

ADOLESCENT; ADULT; BRAIN DISEASES; CALCINOSIS; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE IV; CREATINE KINASE; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NERVE FIBERS, MYELINATED;

EID: 84867575487     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0032-1325116     Document Type: Article

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