Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene

Clinical Genetics

Volumn 82, Issue 1, 2012, Pages 88-92

  Loesch, D Z ^a   Sherwell, S ^a   Kinsella, G ^a   Tassone, F ^b   Taylor, A ^c   Amor, D ^d   Sung, S ^e   Evans, A ^e  

^a LA TROBE UNIVERSITY   (Australia)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c Kimball Genetics Inc   (United States)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e ROYAL MELBOURNE HOSPITAL   (Australia)

Author keywords

Alcohol abuse; Fragile X; FXTAS; Unmethylated full mutation

Indexed keywords

ALCOHOL; FRAGILE X MENTAL RETARDATION PROTEIN;

AGED; ALCOHOL ABUSE; ALCOHOL CONSUMPTION; ARTICLE; ATTENTION DISTURBANCE; BALANCE DISORDER; BODY POSTURE; BRAIN VENTRICLE DILATATION; CASE REPORT; CEREBELLAR PEDUNCLE; CLINICAL FEATURE; COMPREHENSION; CORPUS CALLOSUM; DISEASE CARRIER; DISEASE SEVERITY; DNA METHYLATION; FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME; FRAGILE X SYNDROME; GENE FREQUENCY; GENE MUTATION; HUMAN; INTELLIGENCE QUOTIENT; LATERAL BRAIN VENTRICLE; MALE; MEDICAL HISTORY; MENTAL PERFORMANCE; MINI MENTAL STATE EXAMINATION; MOTOR DYSFUNCTION; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NEUROTOXICITY; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGONUCLEOTIDE PROBE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RECOGNITION; SCORING SYSTEM; SPEECH DISORDER; TENDON REFLEX; WALKING; WHITE MATTER;

AGED; ALCOHOLISM; ATAXIA; DNA METHYLATION; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; PROMOTER REGIONS, GENETIC; RNA, MESSENGER; TREMOR; TRINUCLEOTIDE REPEATS;

EID: 84862241820     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01675.x     Document Type: Article

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