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H00838                      Disease                                

Congenital fibrosis of the extraocular muscles (CFEOM)
Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear (CN 4) nerves, and/or the muscles these nerves innervate. CFEOM is characterized by non-progressive, restrictive ophthalmoplegia of the extraocular muscles and congenital blepharoptosis. Three clinical phenotypes for familial CFEOM (CFEOM1, 2, and 3) have been delineated.
Nervous system disease; Eye disease
BRITE hierarchy
Gap junction
(CFEOM1, CFEOM3B) KIF21A [HSA:55605] [KO:K10395]
(CFEOM2) PHOX2A [HSA:401] [KO:K09330]
(CFEOM3A) TUBB3 [HSA:10381] [KO:K07375]
Other DBs
PMID:21217899 (description, gene)
Cooymans P, Al-Zuhaibi S, Al-Senawi R, Ganesh A
Congenital fibrosis of the extraocular muscles.
Oman J Ophthalmol 3:70-4 (2010)
PMID:18214786 (description)
Heidary G, Engle EC, Hunter DG
Congenital fibrosis of the extraocular muscles.
Semin Ophthalmol 23:3-8 (2008)
PMID:20074521 (gene)
Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcategui CE, de Uzcategui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Moller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Cell 140:74-87 (2010)

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