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Quoted phrase not found in phrase index: "Abnormal extraocular muscle physiology"
Page 1
Congenital myasthenic syndromes.
Finsterer J. Finsterer J. Orphanet J Rare Dis. 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. Orphanet J Rare Dis. 2019. PMID: 30808424 Free PMC article.
The most common causative genes are CHAT, COLQ, RAPSN, CHRNE, DOK7, and GFPT1. Phenotypically, these mutations manifest as abnormal fatigability or permanent or fluctuating weakness of extra-ocular, facial, bulbar, axial, respiratory, or limb muscles, hypotonia, or …
The most common causative genes are CHAT, COLQ, RAPSN, CHRNE, DOK7, and GFPT1. Phenotypically, these mutations manifest as abnormal f …
Clinical and histologic ocular findings in pompe disease.
Yanovitch TL, Banugaria SG, Proia AD, Kishnani PS. Yanovitch TL, et al. J Pediatr Ophthalmol Strabismus. 2010 Jan-Feb;47(1):34-40. doi: 10.3928/01913913-20100106-08. Epub 2010 Jan 21. J Pediatr Ophthalmol Strabismus. 2010. PMID: 20128552 Review.
CONCLUSION: Based on these clinical and histologic reports, patients with Pompe disease may have an increased incidence of ocular abnormalities, such as ptosis and strabismus, and therefore should undergo ophthalmologic examination....
CONCLUSION: Based on these clinical and histologic reports, patients with Pompe disease may have an increased incidence of ocular abnorma …
Oculomotor functions in focal dystonias: A systematic review.
Hirsig A, Barbey C, Schüpbach MWM, Bargiotas P. Hirsig A, et al. Acta Neurol Scand. 2020 May;141(5):359-367. doi: 10.1111/ane.13224. Epub 2020 Feb 12. Acta Neurol Scand. 2020. PMID: 31990980
Focal Dystonia (FD) is a chronic neurological disorder, which causes twisting and repetitive movements and abnormal postures induced by involuntary sustained contractions of agonist and antagonist muscles. ...Twenty out of 329 studies, involving 232 subjects in tota …
Focal Dystonia (FD) is a chronic neurological disorder, which causes twisting and repetitive movements and abnormal postures induced …