Novel POLG splice site mutation and optic atrophy

Archives of Neurology

Volumn 68, Issue 6, 2011, Pages 806-811

  Milone, Margherita ^a   Wang, Jing ^b   Liewluck, Teerin ^a   Chen, Li Chieh ^b   Leavitt, Jacqueline A ^a   Wong, Lee Jun ^b  

^a MAYO CLINIC   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; LEVODOPA; MITOCHONDRIAL DNA; NUCLEAR PROTEIN;

ADULT; AGED; ARTICLE; BRAIN ATROPHY; CASE REPORT; CATARACT; CLINICAL EXAMINATION; COLOR VISION DEFECT; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSPHAGIA; EXON SKIPPING; GENE DELETION; GENE SEQUENCE; GENETIC VARIABILITY; HEARING LOSS; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL GENE; MOLECULAR GENETICS; MUSCLE BIOPSY; MYOPATHY; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPA1 GENE; OPHTHALMOPLEGIA; OPTIC NERVE ATROPHY; OPTICAL COHERENCE TOMOGRAPHY; PARKINSONISM; PATHOGENESIS; PHENOTYPE; POLG GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PTOSIS; RETINA NERVE CELL; RNA SPLICING; SOUTHERN BLOTTING; TERTIARY HEALTH CARE; THICKNESS; VISUAL ACUITY; VISUAL IMPAIRMENT; WEAKNESS;

AGED; DNA-DIRECTED DNA POLYMERASE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUTATION; OPTIC ATROPHIES, HEREDITARY; RNA SPLICE SITES;

EID: 79958757113     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.124     Document Type: Article

References (11)

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