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Congenital Fibrosis of the Extraocular Muscles 1B

MedGen UID:
468526
•Concept ID:
CN120300
•
Disease or Syndrome
Gene (location): TUBB3 (16q24.3)

Authors:
Mary C Whitman  |  Julie A Jurgens  |  David G Hunter, et. al.   view full author information

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Therapy

Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.
Cheng L, Desai J, Miranda CJ, Duncan JS, Qiu W, Nugent AA, Kolpak AL, Wu CC, Drokhlyansky E, Delisle MM, Chan WM, Wei Y, Propst F, Reck-Peterson SL, Fritzsch B, Engle EC
Neuron 2014 Apr 16;82(2):334-49. Epub 2014 Mar 20 doi: 10.1016/j.neuron.2014.02.038. PMID: 24656932Free PMC Article

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