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Journal articles on the topic 'Mitochondrial cytopathy'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

ITO, TAKAYUKI, KAZUKI HATTORI, MASASHI TANAKA, SATORU SUGIYAMA, and TAKAYUKI OZAWA. "Mitochondrial cytopathy." Japanese Circulation Journal 54, no. 9 (1990): 1214–20. http://dx.doi.org/10.1253/jcj.54.1214.

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2

Hilton-Jones, David. "Mitochondrial Cytopathy." Practical Neurology 2, no. 1 (2002): 55–57. http://dx.doi.org/10.1046/j.1474-7766.2002.00308.x.

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3

Dąbrowska, Anna, Barbara Sobolewska-Nowakowska, and Ewa Gulczyńska. "Mitochondrial cytopathy – case report." Postępy Neonatologii 2019, no. 2 (2019): 135–38. http://dx.doi.org/10.31350/postepyneonatologii/2019/2/pn2019016.

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4

Baruah, Jitendra K., and Deb Kinder. "Ethanol induced “mitochondrial cytopathy”." Experimental pathology 30, no. 3 (1986): 189–90. http://dx.doi.org/10.1016/s0232-1513(86)80094-9.

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5

Shimizu, J., A. Inatsu, S. Oshima, et al. "Hyperkalemia in familial mitochondrial cytopathy." Clinical Nephrology 70, no. 10 (2008): 348–53. http://dx.doi.org/10.5414/cnp70348.

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6

Debray, François-Guillaume, Eric Drouin, Denise Herzog, et al. "Recurrent pancreatitis in mitochondrial cytopathy." American Journal of Medical Genetics Part A 140A, no. 21 (2006): 2330–35. http://dx.doi.org/10.1002/ajmg.a.31457.

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7

Damian, Maxwell Simon, Wolfgang Sauter, and Heinz Reichmann. "Subcutaneous microdialysis in mitochondrial cytopathy." Muscle & Nerve 24, no. 5 (2001): 648–53. http://dx.doi.org/10.1002/mus.1050.

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8

Sarnat, Harvey B., and José Marín-García. "Pathology of Mitochondrial Encephalomyopathies." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 32, no. 2 (2005): 152–66. http://dx.doi.org/10.1017/s0317167100003929.

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ABSTRACT:Muscle biopsy provides the best tissue to confirm a mitochondrial cytopathy. Histochemical features often correlate with specific syndromes and facilitate the selection of biochemical and genetic studies. Ragged-red fibres nearly always indicate a combination defect of respiratory complexes I and IV. Increased punctate lipid within myofibers is a regular feature of Kearns-Sayre and PEO, but not of MELAS and MERRF. Total deficiency of succinate dehydrogenase indicates a severe defect in Complex II; total absence of cytochrome-c-oxidase activity in all myofibres correlates with a severe

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9

Cullington, Helen E. "Cochlear implantation of a deaf blind patient with mitochondrial cytopathy." Journal of Laryngology & Otology 113, no. 4 (1999): 353–54. http://dx.doi.org/10.1017/s0022215100143956.

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AbstractGenetic defects of the mitochondrial DNA often cause sensorineural hearing impairment, accompaniment by disorders of organs within the body. This case report describes cochlear implantation of a 33-year-old deaf blind female with mitochondrial cytopathy. The outcome was very successful, and vastly improved quality of life for this patient. Many cases of mitochondrial cytopathy cause progressive deafness; it is, therefore, likely that other patients with this unusual disorder will present for cochlear implant assessment.

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10

Pegg, Emily, Katherine Dodd, and Sandip Shaunak. "MITOCHONDRIAL CYTOPATHY PRESENTING WITH CEREBELLAR ATAXIA." Journal of Neurology, Neurosurgery & Psychiatry 86, no. 11 (2015): e4.166-e4. http://dx.doi.org/10.1136/jnnp-2015-312379.73.

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A previously fit and well 59 year old man presented with a 3 year history of slowly progressive decline in mobility with increasing unsteadiness and falls. He also reported clumsiness of both hands and his wife noted poor memory. There was no family history of note, including deafness and diabetes. He drank alcohol occasionally. On examination he had signs consistent with a cerebellar and pyramidal syndrome with subcortical cognitive impairment.An MRI scan of the brain and spine showed significant generalised cerebral atrophy. CSF protein was 0.80g/L, with normal cell count and no oligoclonal

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11

Hess, Jürg, Pierre Burkhard, Michael Morris, Maria Lalioti, Peter Myers, and Antoine Hadengue. "Ischaemic colitis due to mitochondrial cytopathy." Lancet 346, no. 8968 (1995): 189–90. http://dx.doi.org/10.1016/s0140-6736(95)91251-7.

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12

Wang, Li-Chieh, Wang-Tso Lee, Wen-Yu Tsai, Yong-Kwei Tsau, and Yu-Zen Shen. "Mitochondrial cytopathy combined with Fanconi’s syndrome." Pediatric Neurology 22, no. 5 (2000): 403–6. http://dx.doi.org/10.1016/s0887-8994(00)00128-4.

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13

Mordekar, SR, and PS Baxter. "'Cerebral palsy' due to mitochondrial cytopathy." Journal of Paediatrics and Child Health 40, no. 12 (2004): 714–15. http://dx.doi.org/10.1111/j.1440-1754.2004.00518.x.

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14

Caer, Morgane, Karine Viala, Richard Levy, et al. "Adult-onset chorea and mitochondrial cytopathy." Movement Disorders 20, no. 4 (2004): 490–92. http://dx.doi.org/10.1002/mds.20363.

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15

Castro-Gago, M., J. Eirís-Puñal, J. M. Martinón Sánchez, A. Rodríguez-Nuñez, and J. L. Herranz Fernández. "Severe myoclonic epilepsy and mitochondrial cytopathy." Child's Nervous System 13, no. 11-12 (1997): 570–71. http://dx.doi.org/10.1007/s003810050141.

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16

Shemer, Scott A., Leah Marley, and Francis Miller. "Intestinal pseudo-obstruction due to mitochondrial cytopathy." ANZ Journal of Surgery 80, no. 7-8 (2010): 571. http://dx.doi.org/10.1111/j.1445-2197.2010.05368.x.

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17

Bader-Meunier, Brigitte, Agnes ROutig, Francoise Mielot, et al. "Refractory anaemia and mitochondrial cytopathy in childhood." British Journal of Haematology 87, no. 2 (1994): 381–85. http://dx.doi.org/10.1111/j.1365-2141.1994.tb04926.x.

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18

Doleris, Luc Moulonguet, Gary S. Hill, Pierre Chedin, et al. "Focal segmental glomerulosclerosis associated with mitochondrial cytopathy." Kidney International 58, no. 5 (2000): 1851–58. http://dx.doi.org/10.1111/j.1523-1755.2000.00356.x.

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19

Castro-Gago, Manuel, Jesus Eir�s, Jos� Fern�ndez-Bustillo, et al. "Severe myoclonic epilepsy associated with mitochondrial cytopathy." Child's Nervous System 11, no. 11 (1995): 630–33. http://dx.doi.org/10.1007/bf00300719.

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20

Warrick, P. D., P. Wardrop, and D. W. Sim. "Sensorineural hearing loss in MELAS syndrome." Journal of Laryngology & Otology 111, no. 3 (1997): 279–81. http://dx.doi.org/10.1017/s0022215100137089.

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AbstractA case of sensorineural hearing loss (SNHL) in MELAS syndrome, a variety of mitochondrial cytopathy, is presented. Mitochondrial cytopathies have gone almost unreported in the otolaryngology literature, despite evidence from a recent review that about 60 per cent of such patients suffer from SNHL (Gold and Rapin, 1994). The same review revealed that only one of 117 case reports in the period 1984–1993 contained an audiogram (Swift and Singh, 1988), and none presented sequential audiograms. However, audiometry has since been published on 23 members of a family with a mitochondrial point

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21

Lennox, Graham, Richard Jones, Colin Mumford, James Lowe, and David Jefferson. "MITOCHONDRIAL CYTOPATHY AND NEURODEGENERATIVE DISEASES OF OLD AGE." Lancet 333, no. 8649 (1989): 1266–67. http://dx.doi.org/10.1016/s0140-6736(89)92361-1.

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22

Fujii, Tatsuya, Takehiko Okuno, Masatoshi Ito, et al. "MELAS of infantile onset: mitochondrial angiopathy or cytopathy?" Journal of the Neurological Sciences 103, no. 1 (1991): 37–41. http://dx.doi.org/10.1016/0022-510x(91)90280-k.

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23

Barberi, Salvatore, Elena Bozzola, Angela Berardinelli, Cristina Meazza, and Mauro Bozzola. "Long-Term Growth Hormone Therapy in Mitochondrial Cytopathy." Hormone Research in Paediatrics 62, no. 2 (2004): 103–6. http://dx.doi.org/10.1159/000080451.

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24

Maegawa, Yasuyo, Hiromi Nakagawa, Toyoshi Hosokawa, and Yoshifumi Tanaka. "Anesthetic management for an infant with mitochondrial cytopathy." Journal of Anesthesia 9, no. 4 (1995): 376–79. http://dx.doi.org/10.1007/bf02479959.

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25

Güçer, Şafak, Beril Talim, Esin Aşan, et al. "Focal Segmental Glomerulosclerosis Associated with Mitochondrial Cytopathy: Report of Two Cases with Special Emphasis on Podocytes." Pediatric and Developmental Pathology 8, no. 6 (2005): 710–17. http://dx.doi.org/10.1007/s10024-005-0058-z.

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We report two children with focal segmental glomerulosclerosis (FSGS) associated with mitochondrial cytopathy (MC). Case 1 was diagnosed as MC with the findings of ptosis, ophthalmoplegia, failure to thrive, high serum lactate and pyruvate levels, ragged red fibers in muscle biopsy and the common 4.9 kb deletion in mtDNA when she was four years old. She subsequently developed FSGS four years later. Case 2 was a four month-old girl presenting with feeding difficulty from birth, with vomiting, seizures and nystagmoid eye movements, nephrotic proteinuria and hematuria. Renal biopsy revealed FSGS.

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26

Chandra, SadanandavalliRetnaswami, and ThomasGregor Issac. "A case of mitochondrial cytopathy with exertion induced dystonia." Journal of Pediatric Neurosciences 10, no. 3 (2015): 254. http://dx.doi.org/10.4103/1817-1745.165683.

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27

Cohen, B. H., and D. R. Gold. "Mitochondrial cytopathy in adults: what we know so far." Cleveland Clinic Journal of Medicine 68, no. 7 (2001): 625–26. http://dx.doi.org/10.3949/ccjm.68.7.625.

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28

Girlanda, P., A. Toscano, C. Nicolosi, et al. "Electrophysiological study of neuromuscular system involvement in mitochondrial cytopathy." Clinical Neurophysiology 110, no. 7 (1999): 1284–89. http://dx.doi.org/10.1016/s1388-2457(98)00041-8.

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29

Sowmini, PR, P. Vijayashankar, and S. Gobinathan. "Multiple symmetric lipomatosis: A clinical marker of mitochondrial cytopathy." Neurology India 67, no. 3 (2019): 920. http://dx.doi.org/10.4103/0028-3886.263182.

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30

Hall, A. M., R. J. Unwin, M. G. Hanna, and M. R. Duchen. "Renal function and mitochondrial cytopathy (MC): more questions than answers?" QJM 101, no. 10 (2008): 755–66. http://dx.doi.org/10.1093/qjmed/hcn060.

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31

Karri, B., R. T. Sebastian, G. Kyle, I. K. Hart, and R. C. Mountford. "Ptosis as the Only Presenting Feature of a Mitochondrial Cytopathy." Neuro-Ophthalmology 35, no. 5-6 (2011): 284–88. http://dx.doi.org/10.3109/01658107.2011.615453.

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32

SAFIR, MICHAEL H., ANGELO E. GOUSSE, STEPHEN D. CEDERBAUM, and SHLOMO RAZ. "VOIDING DYSFUNCTION IN A MOTHER AND DAUGHTER WITH MITOCHONDRIAL CYTOPATHY." Journal of Urology 160, no. 3 Part 1 (1998): 830. http://dx.doi.org/10.1016/s0022-5347(01)62800-3.

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33

Runge, P., D. Calver, J. Marshall, and D. Taylor. "Histopathology of mitochondrial cytopathy and the Laurence-Moon-Biedl syndrome." British Journal of Ophthalmology 70, no. 10 (1986): 782–96. http://dx.doi.org/10.1136/bjo.70.10.782.

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34

Moreira, A., A. Silva, M. Antunes, I. Neves, C. Costa, and P. Santos. "Anaesthesia in patients with mitochondrial cytopathy: 6 years series review." European Journal of Anaesthesiology 31 (June 2014): 258–59. http://dx.doi.org/10.1097/00003643-201406001-00746.

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35

Scaglia, Fernando, Chang-Hung Hsu, Haeyoung Kwon, et al. "Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy." Genetics in Medicine 8, no. 10 (2006): 641–52. http://dx.doi.org/10.1097/01.gim.0000237781.10594.d1.

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36

Mori, Masato, Takanori Yamagata, Tamako Goto, Shigeko Saito, and Mariko Y. Momoi. "Dichloroacetate treatment for mitochondrial cytopathy: long-term effects in MELAS." Brain and Development 26, no. 7 (2004): 453–58. http://dx.doi.org/10.1016/j.braindev.2003.12.009.

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37

Iwanaga, Rikako, Yasutoshi Koga, Shuichi Aramaki, Seiya Kato, and Hirohisa Kato. "Inter- and/or Intra-organ distribution of mitochondrial C3303T or A3243G mutation in mitochondrial cytopathy." Acta Neuropathologica 101, no. 2 (2001): 179–84. http://dx.doi.org/10.1007/s004010000266.

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38

Neargarder, Sandy A., Janessa O. Carvalho, and Karen D. Sullivan. "Neuropsychologic Profile of a High-functioning Family With a Mitochondrial Cytopathy." Cognitive and Behavioral Neurology 20, no. 3 (2007): 193–201. http://dx.doi.org/10.1097/wnn.0b013e318051808c.

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39

Cursiefen, Claus, Michael Küchle, Wolfram Scheurlen, and Gottfried O. H. Naumann. "Bilateral zonular cataract associated with the mitochondrial cytopathy of pearson syndrome." American Journal of Ophthalmology 125, no. 2 (1998): 260–61. http://dx.doi.org/10.1016/s0002-9394(99)80105-6.

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40

Teraoka, Michio, Yuji Yokoyama, Koichi Ichimura, Rintaro Mori, and Yoshiki Seino. "Fatal neonatal mitochondrial cytopathy with disseminated fatty nodules in the liver." Pediatrics International 45, no. 5 (2003): 570–73. http://dx.doi.org/10.1046/j.1442-200x.2003.01788.x.

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41

Pröbstel, Anne-Katrin, André Schaller, Johanna Lieb, et al. "Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic." Neurology Genetics 2, no. 6 (2016): e121. http://dx.doi.org/10.1212/nxg.0000000000000121.

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42

Bayrakci, Umut Selda, Esra Baskin, Figen Ozcay, Binnaz Handan Ozdemir, Hamdi Karakayali, and Mehmet Haberal. "Renal Fanconi syndrome and myopathy after liver transplantation: Drug-related mitochondrial cytopathy?" Pediatric Transplantation 12, no. 1 (2008): 109–12. http://dx.doi.org/10.1111/j.1399-3046.2007.00839.x.

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43

Aubry, E., C. Aeberhard, L. Bally, S. Mühlebach, and Z. Stanga. "SUN-P179: Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy (Namito Study)." Clinical Nutrition 36 (September 2017): S120. http://dx.doi.org/10.1016/s0261-5614(17)30449-1.

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44

Marín-García, José, Michael J. Goldenthal, Laura Flores-Sarnat, and Harvey B. Sarnat. "Severe mitochondrial cytopathy with complete a-v block, peo, and mtDNA deletions." Pediatric Neurology 27, no. 3 (2002): 213–16. http://dx.doi.org/10.1016/s0887-8994(02)00426-5.

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45

Kitano, Akito, Soroku Nishiyama, Teruhisa Miike, Shinzaburo Hattori, Yoshinobu Ohtani, and Ichiro Matsuda. "Mitochondrial cytopathy with lactic acidosis, carnitine deficiency and DeToni-Fanconi-Debré syndrome." Brain and Development 8, no. 3 (1986): 289–95. http://dx.doi.org/10.1016/s0387-7604(86)80085-7.

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46

Fayon, Michael, Thierry Lamireau, Paulette Bioulac-Sage, et al. "Fatal neonatal liver failure and mitochondrial cytopathy: An observation with antenatal ascites." Gastroenterology 103, no. 4 (1992): 1332–35. http://dx.doi.org/10.1016/0016-5085(92)91525-9.

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47

Kanjwal, Khalil, Beverly Karabin, Yousuf Kanjwal, Bilal Saeed, and Blair P. Grubb. "Autonomic Dysfunction Presenting as Orthostatic Intolerance in Patients Suffering From Mitochondrial Cytopathy." Clinical Cardiology 33, no. 10 (2010): 626–29. http://dx.doi.org/10.1002/clc.20805.

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48

Gussi, I. L., H. Rahimian, A. Stanescu Popp, B. Vamesu, I. M. Dimbeanu, and A. M. Pop. "P07.09: Prenatal features of an uncommon specific mitochondrial cytopathy - the Pearson syndrome." Ultrasound in Obstetrics & Gynecology 34, S1 (2009): 204. http://dx.doi.org/10.1002/uog.7105.

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49

Torgbergsen, Torberg, Erik Stålberg, and Janne K. Bless. "Nerve-muscle involvement in a large family with mitochondrial cytopathy: Electrophysiological studies." Muscle & Nerve 14, no. 1 (1991): 35–41. http://dx.doi.org/10.1002/mus.880140107.

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50

Sukayogula, Malini, and Tarakeswari Surapaneni. "Mitochondrial disorders-challenges in pregnancy: a case report." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 14, no. 1 (2024): 258–61. https://doi.org/10.18203/2320-1770.ijrcog20243964.

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Mitochondrial disorders (MD) encompass a diverse group of genetic disorders affecting the intra-cellular energy-producing organelles. During pregnancy, these disorders present unique challenges that warrant special attention. Here, we report a case of a 28-year-old woman who presented with ptosis since, 11 years of age. Muscle biopsy revealed mitochondrial cytopathy, but genetic evaluation was not done. She presented to us in early pregnancy. Whole Mitochondrial genome sequencing showed no pathological / likely pathological variant. Whole Exome sequencing revealed a Homozygous missense variant

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