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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2003-12-3
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pubmed:databankReference |
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pubmed:abstractText |
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:AkarsuA NurtenAN,
pubmed-author:AndrewsCarolineC,
pubmed-author:BattuRaviR,
pubmed-author:BrodskyMichael CMC,
pubmed-author:CarlowThomas JTJ,
pubmed-author:ChanWai-ManWM,
pubmed-author:CruseRobert PRP,
pubmed-author:Del MonteMonteM,
pubmed-author:DemerJoseph LJL,
pubmed-author:EngleElizabeth CEC,
pubmed-author:FranceschiniPiergiorgioP,
pubmed-author:GoldsteinScott MSM,
pubmed-author:GottlobIreneI,
pubmed-author:HanischFrankF,
pubmed-author:HartBlaine LBL,
pubmed-author:HoutmanWillem AWA,
pubmed-author:JohnsonRoger HRH,
pubmed-author:KatowitzJamesJ,
pubmed-author:KowalLionelL,
pubmed-author:KrawieckiNicolasN,
pubmed-author:LazarMosheM,
pubmed-author:LetsonRobertR,
pubmed-author:LevinAlex VAV,
pubmed-author:LoewensteinAnatA,
pubmed-author:LondonArnoldA,
pubmed-author:MagliAdrianoA,
pubmed-author:MatsumotoNaomichiN,
pubmed-author:McKeownCraig ACA,
pubmed-author:MorrisLisaL,
pubmed-author:NewlinAnnaA,
pubmed-author:O'KeefeMichaelM,
pubmed-author:OzturkBanu TBT,
pubmed-author:RobbRichard MRM,
pubmed-author:RoggenkäemperPeterP,
pubmed-author:RuttumMarkM,
pubmed-author:SaitoNakamichiN,
pubmed-author:SenerEmin CEC,
pubmed-author:ShoffnerJohnJ,
pubmed-author:TraboulsiElias IEI,
pubmed-author:UyamaEiichiroE,
pubmed-author:VogelMarlene CMC,
pubmed-author:YamadaKokiK,
pubmed-author:ZubcovAlina AAA,
pubmed-author:de BerardinisTeresaT,
pubmed-author:de VriesBerendinaB
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pubmed:issnType |
Print
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pubmed:volume |
35
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
318-21
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:14595441-Humans,
pubmed-meshheading:14595441-Child,
pubmed-meshheading:14595441-Ophthalmoplegia,
pubmed-meshheading:14595441-Mutation,
pubmed-meshheading:14595441-Oculomotor Muscles,
pubmed-meshheading:14595441-Female,
pubmed-meshheading:14595441-Male,
pubmed-meshheading:14595441-Genetic Variation,
pubmed-meshheading:14595441-Fibrosis,
pubmed-meshheading:14595441-Pedigree,
pubmed-meshheading:14595441-Nerve Tissue Proteins,
pubmed-meshheading:14595441-Amino Acid Sequence,
pubmed-meshheading:14595441-Heterozygote,
pubmed-meshheading:14595441-Phenotype,
pubmed-meshheading:14595441-Genetic Linkage,
pubmed-meshheading:14595441-Molecular Sequence Data,
pubmed-meshheading:14595441-Sequence Homology, Amino Acid,
pubmed-meshheading:14595441-Kinesin
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