Mitochondrial encephalomyopathies are clinically and genetically heterogeneous disorders. External ophthalmoplegia is the most frequent symptom. Other frequently involved tissues and organs include the retina, heart, limb muscles, peripheral and central nervous system, inner ear and endocrine system. The diagnosis is based on the finding of elevated serum lactate, the characteristic histopathological changes in the muscle biopsy, and decreased activities of mitochondrial respiratory chain enzymes. In many cases, the underlying molecular defect in the mtDNA can be identified. The efficacy of pharmacological therapies (e.g., coenzyme Q) has not been established so far. Symptomatic ophthalmological treatment includes ptosis and strabismus surgery. Early cardiac pacemaker implantation may be life-saving.
机构:
Ibn Sina Hosp, Al Bahar Ophthalmol Ctr, Neuroophthalmol Unit, Kuwait 70035, KuwaitIbn Sina Hosp, Al Bahar Ophthalmol Ctr, Neuroophthalmol Unit, Kuwait 70035, Kuwait
Ali, Ali
Esmaeil, Ali
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Ibn Sina Hosp, Al Bahar Ophthalmol Ctr, Neuroophthalmol Unit, Kuwait 70035, KuwaitIbn Sina Hosp, Al Bahar Ophthalmol Ctr, Neuroophthalmol Unit, Kuwait 70035, Kuwait
Esmaeil, Ali
Behbehani, Raed
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Ibn Sina Hosp, Al Bahar Ophthalmol Ctr, Neuroophthalmol Unit, Kuwait 70035, KuwaitIbn Sina Hosp, Al Bahar Ophthalmol Ctr, Neuroophthalmol Unit, Kuwait 70035, Kuwait
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Department of Ophthalmology, University of Iowa Hospitals and Clinics, PFP, 200 Hawkins Drive, Iowa City, 52242, IADepartment of Ophthalmology, University of Iowa Hospitals and Clinics, PFP, 200 Hawkins Drive, Iowa City, 52242, IA
Lee A.G.
Brazis P.W.
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Department of Ophthalmology, University of Iowa Hospitals and Clinics, PFP, 200 Hawkins Drive, Iowa City, 52242, IADepartment of Ophthalmology, University of Iowa Hospitals and Clinics, PFP, 200 Hawkins Drive, Iowa City, 52242, IA
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Seoul Natl Univ Hosp, Biomed Res Inst, Seoul, South KoreaSeoul Natl Univ Hosp, Biomed Res Inst, Seoul, South Korea
Kim, Ji Yeon
Yang, Hee Kyung
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Seoul Natl Univ, Coll Med, Bundang Hosp, Dept Ophthalmol, 82 Gumi Ro,173 Beon Gil, Seongnam, Gyeonggi Do, South KoreaSeoul Natl Univ Hosp, Biomed Res Inst, Seoul, South Korea
Yang, Hee Kyung
Kim, Namju
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Seoul Natl Univ, Coll Med, Bundang Hosp, Dept Ophthalmol, 82 Gumi Ro,173 Beon Gil, Seongnam, Gyeonggi Do, South KoreaSeoul Natl Univ Hosp, Biomed Res Inst, Seoul, South Korea
Kim, Namju
Kim, Man Jin
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp, Dept Lab Med, 101 Daehak Ro, Seoul 03080, South KoreaSeoul Natl Univ Hosp, Biomed Res Inst, Seoul, South Korea
Kim, Man Jin
Cho, Sung Im
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp, Dept Lab Med, 101 Daehak Ro, Seoul 03080, South KoreaSeoul Natl Univ Hosp, Biomed Res Inst, Seoul, South Korea
Cho, Sung Im
Seong, Moon-Woo
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Seoul Natl Univ Hosp, Biomed Res Inst, Seoul, South Korea
Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp, Dept Lab Med, 101 Daehak Ro, Seoul 03080, South KoreaSeoul Natl Univ Hosp, Biomed Res Inst, Seoul, South Korea
Seong, Moon-Woo
Park, Sung Sup
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Seoul Natl Univ Hosp, Biomed Res Inst, Seoul, South Korea
Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp, Dept Lab Med, 101 Daehak Ro, Seoul 03080, South KoreaSeoul Natl Univ Hosp, Biomed Res Inst, Seoul, South Korea
Park, Sung Sup
Hwang, Jeong-Min
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Seoul Natl Univ, Coll Med, Bundang Hosp, Dept Ophthalmol, 82 Gumi Ro,173 Beon Gil, Seongnam, Gyeonggi Do, South KoreaSeoul Natl Univ Hosp, Biomed Res Inst, Seoul, South Korea