Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7

JAMA Neurology

Volumn 72, Issue 2, 2015, Pages 219-223

  Trang, Heather ^a   Stanley, Sabrina Y ^a   Thorner, Paul ^a   Faghfoury, Hannaneh ^a   Schulze, Andreas ^a   Hawkins, Cynthia ^a   Pearson, Christopher E ^a,b   Yoon, Grace ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ATXN7 GENE; BRAIN ATROPHY; CAG REPEAT; CASE REPORT; CEREBELLUM ATROPHY; CHILD; EVOKED VISUAL RESPONSE; FAMILY HISTORY; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE; GENETIC ANALYSIS; GENETIC SCREENING; GENOMIC INSTABILITY; HEREDITARY ATAXIA; HUMAN; INFANT DISEASE; INFANTILE SPINOCEREBELLAR ATAXIA TYPE 7; KIDNEY BIOPSY; MALE; MATERNAL HYPERTENSION; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROTEINURIA; SOMATIC INSTABILITY; SPINOCEREBELLAR DEGENERATION; FATALITY; GENETICS; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; TRINUCLEOTIDE REPEAT;

ADULT; CHILD, PRESCHOOL; FATAL OUTCOME; FEMALE; GENOMIC INSTABILITY; HUMANS; MALE; PEDIGREE; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84922972080     PISSN: 21686149     EISSN: 21686157     Source Type: Journal    
DOI: 10.1001/jamaneurol.2014.1902     Document Type: Article

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