Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion

American Journal of Medical Genetics

Volumn 79, Issue 5, 1998, Pages 383-387

  Babovic Vuksanovic, Dusica ^a   Snow, Karen ^a   Patterson, Marc C ^a   Michels, Virginia V ^a  

^a MAYO CLINIC   (United States)

Author keywords

Autosomal dominant spinocerebellar ataxia; CAG repeat; Developmental delay; Retinitis pigmentosa; SCA2

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CEREBELLAR ATAXIA; CHILD; CLINICAL FEATURE; DEGENERATIVE DISEASE; DEVELOPMENTAL DISORDER; DNA DETERMINATION; FAMILY HISTORY; FEMALE; HEREDITARY ATAXIA; HUMAN; INFANTILE HYPOTONIA; NUCLEOTIDE REPEAT; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DNA; FATAL OUTCOME; FEMALE; GENES, DOMINANT; HUMANS; NERVE TISSUE PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEINS; RETINITIS PIGMENTOSA; SPINOCEREBELLAR DEGENERATIONS; TRINUCLEOTIDE REPEAT EXPANSION;

ATAXIA;

EID: 0032511743     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981012)79:5<383::AID-AJMG10>3.0.CO;2-N     Document Type: Article

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