Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome

American Journal of Medical Genetics

Volumn 128 A, Issue 2, 2004, Pages 195-198

  Salviati, Leonardo ^a   Freehauf, Cindy ^b   Sacconi, Sabrina ^a   DiMauro, Salvatore ^a   Thoma, Janet ^b   Tsai, Anne Chun Hui ^b,c  

^a Columbia Univ Coll Phys/Surgs ^*  (United States)

^b UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^c CHILDREN S HOSPITAL   (United States)

Author keywords

Brainstem and cerebellar involvement; COX deficiency; Leigh Syndrome; SURF1

Indexed keywords

CYTOCHROME C OXIDASE; GENOMIC DNA;

ARTICLE; ATAXIA; BASAL GANGLION; BRAIN DISEASE; BRAIN STEM; CASE REPORT; CEREBELLUM; CLINICAL FEATURE; DISEASE COURSE; FAILURE TO THRIVE; GENE; GENE MUTATION; HUMAN; LEIGH DISEASE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NEUROPATHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RESPIRATORY FAILURE; SCHOOL CHILD; SURF1 GENE;

BASE SEQUENCE; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT; HUMANS; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; PROTEINS;

ATAXIA;

EID: 4444311185     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30073     Document Type: Article

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