Congenital Fibrosis of the Extraocular Muscles (CFEOM) syndrome associated with progressive cerebellar ataxia

American Journal of Medical Genetics, Part A

Volumn 143, Issue 13, 2007, Pages 1494-1501

  Yoshida, Kunihiro ^a   Okano, Tomomi ^a   Hoshi, Kenichi ^a   Yahikozawa, Hiroyuki ^a   Suzuki, Kayo ^b   Banno, Haruhiko ^c   Tamura, Takuya ^c   Sobue, Gen ^c   Ikeda, Shu Ichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SHINSHU UNIVERSITY   (Japan)

^c NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Cerebellar ataxia; CFEOM; KIF21A; Ophthalmoplegia; Ptosis

Indexed keywords

ADULT; AMBLYOPIA; ARTICLE; ASTIGMATISM; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES; EXTRAOCULAR MUSCLE; FEMALE; GAZE; HUMAN; JAPANESE; LINKAGE ANALYSIS; MALE; MUSCLE BIOPSY; MYOFIBROSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; OPTIC NERVE ATROPHY; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; RETINA PIGMENT DEGENERATION;

ADOLESCENT; ADULT; CEREBELLAR ATAXIA; EYE DISEASES, HEREDITARY; FEMALE; FIBROSIS; HUMANS; KINESIN; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; OCULOMOTOR MUSCLES; PEDIGREE;

EID: 34447311646     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31795     Document Type: Article

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