Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset friedreich ataxia

Movement Disorders

Volumn 23, Issue 9, 2008, Pages 1303-1306

  Stolle, Catherine A ^a   Frackelton, Edward C ^a   McCallum, Jennifer ^a   Farmer, Jennifer M ^b   Tsou, Amy ^b   Wilson, Robert B ^b   Lynch, David R ^b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Ataxia; Dorsal column; Spasticity; Triplet repeat

Indexed keywords

ADENOSINE; FRATAXIN; GENE PRODUCT; GENOMIC DNA; GUANOSINE; PROTEIN FRDA; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ARTICLE; BALANCE DISORDER; BRAIN RADIOGRAPHY; CEREBELLUM ATROPHY; CEREBELLUM VERMIS; CLINICAL ARTICLE; CONTROLLED STUDY; COORDINATION DISORDER; DYSARTHRIA; DYSMETRIA; ELECTROMYOGRAPHY; FEMALE; FRIEDREICH ATAXIA; GAIT DISORDER; GENE SEQUENCE; HUMAN; HYPERREFLEXIA; INTRON; MALE; MUSCLE TONE; NERVE POTENTIAL; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROPRIOCEPTION; SPASTICITY; SPINAL CORD COMPRESSION; TRINUCLEOTIDE REPEAT; VIBRATION SENSE;

AGE OF ONSET; AGED; ALLELES; FEMALE; FRIEDREICH ATAXIA; GENOTYPE; HUMANS; IRON-BINDING PROTEINS; MALE; MIDDLE AGED; MUTATION; SIBLINGS; TANDEM REPEAT SEQUENCES;

EID: 52649108730     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22012     Document Type: Article

References (14)

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