Progressive External Ophthalmoplegia with Myopathy
نویسندگان
چکیده
منابع مشابه
Chronic progressive external ophthalmoplegia with inflammatory myopathy.
Chronic progressive external ophthalmoplegia is one of mitochondrial disorders, characterized by ptosis, limitation of eye movement, variably severe bulbar muscle weakness and proximal limb weakness. Chronic progressive external ophthalmoplegia complicated with acquired disease is extremely rare. We report a 44 years old male patient with more than 20 years of chronic progressive bilateral ptos...
متن کاملMitochondrial myopathy with chronic progressive external ophthalmoplegia.
Introduction Mitochondrial diseases are a diverse group with multisystem involvement caused by structural, biochemical or genetic derangement of mitochondria. Cerebral neurones and myocytes which require a high yield of energy are particularly vulnerable to mitochondrial dysfunction and neuromuscular manifestations are common in mitochodrial disorders. We report two cases of mitochondrial myopa...
متن کاملChronic Progressive External Ophthalmoplegia
S U M M A R Y — Th i s s tudy quantif ies the m a i o r e lect ron m i c r o s c o p i c changes in l imb muscle b iops ies f r o m 31 out of 34 pat ients wi th the s y n d r o m e of ch ron ic p rogress ive external oph tha lmopleg ia . Pat ients w e r e d iv ided into three cl inical g r o u p s — A ) 10 sporad ic cases wi th musc l e weakness o n l y ; B ) 9 familial cases w i t h musc le we...
متن کاملProgressive External Ophthalmoplegia (peo): Presentation of a Mitochondrial Myopathy Accompanied by Electron Microscope
Kearns-Sayre syndrome is a mitochondrial disease, presenting findings before the age of 20 and characterized by chronic progressive external ophthalmoplegia and pigmentary retinal degeneration. It affects many organs, resulting in a very wide spectrum of complications. In this work, a 24-year-old female, whose complaints first started at the age of 12, showing progressing external ophthalmopleg...
متن کاملOrthostatic tremor, progressive external ophthalmoplegia, and Twinkle.
IMPORTANCE Orthostatic tremor (OT) is a high-frequency (13-18 Hz) leg tremor occurring in standing position. Orthostatic tremor has an unknown pathophysiologic mechanism. It is thought to be sporadic but siblings with OT from 3 unrelated families were reported. No mutations have been reported in OT. We describe a patient with OT carrying a C10orf2 TWINKLE mutation to highlight the possible asso...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1936
ISSN: 0035-9157
DOI: 10.1177/003591573602900432