Spinocerebellar Ataxia Type 2 (SCA2) Presenting with Ophthalmoplegia and Developmental Delay in Infancy

American Journal of Medical Genetics

Volumn 124 A, Issue 4, 2004, Pages 392-396

  Moretti, Paolo ^a   Blazo, Maria ^a   Garcia, Leonardo ^b   Armstrong, Dawna ^a   Lewis, Richard Alan ^a   Roa, Benjamin ^a   Scaglia, Fernando ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

Author keywords

CAG repeat; Childhood onset ataxia; SCA2; Spinocerebellar ataxia; Triplet repeat expansion

Indexed keywords

ARTICLE; BRAIN ATROPHY; BRAIN STEM; CASE REPORT; CEREBELLUM ATROPHY; CLINICAL FEATURE; COGNITIVE DEFECT; DISEASE COURSE; DYSARTHRIA; DYSMETRIA; DYSPHAGIA; EYE MOVEMENT DISORDER; FAMILY HISTORY; GAIT DISORDER; GROWTH RETARDATION; HUMAN; INCONTINENCE; MALE; MITOCHONDRIAL RESPIRATION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OPHTHALMOPLEGIA; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RETINA PIGMENT DEGENERATION; SCHOOL CHILD; SPINOCEREBELLAR DEGENERATION; TREMOR;

ATAXIA;

EID: 0942268994     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20428     Document Type: Article

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