Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A

Investigative Ophthalmology and Visual Science

Volumn 46, Issue 2, 2005, Pages 530-539

  Demer, Joseph L ^a,b,c   Clark, Robert A ^a   Engle, Elizabeth C ^d,e  

^a JULES STEIN EYE INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c University of California   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

KINESIN;

ABDUCENS NERVE; ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLE TYPE 1; CONTROLLED STUDY; DIAGNOSTIC IMAGING; EYE MOVEMENT; EYELID MUSCLE; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN EXPERIMENT; KIF21A GENE; MALE; MOTOR NERVE; MUSCLE CONTRACTILITY; MUSCLE FORCE; MUSCLE INNERVATION; NORMAL HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULOMOTOR NERVE; OPHTHALMOPLEGIA; OPTIC NERVE; OPTICAL RESOLUTION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; SENSORIMOTOR FUNCTION; SENSORY NERVE;

ADOLESCENT; ADULT; AGED; BLEPHAROPTOSIS; CHILD; CHILD, PRESCHOOL; FEMALE; FIBROSIS; HUMANS; KINESIN; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; OCULOMOTOR MUSCLES; OCULOMOTOR NERVE DISEASES; OPHTHALMOPLEGIA; PEDIGREE;

EID: 13944284455     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.04-1125     Document Type: Article

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