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MERRF syndromemyoclonic epilepsy and ragged red fibersmyoclonic epilepsy with ragged-red fibers

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2016/05/05 01:37:08」(JST)

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  • Three families with 'de novo' m.3243A > G mutation.
  • de Laat P1, Janssen MC2, Alston CL3, Taylor RW3, Rodenburg RJ1, Smeitink JA1.
  • BBA clinical.BBA Clin.2016 Apr 29;6:19-24. doi: 10.1016/j.bbacli.2016.04.007. eCollection 2016.
  • The m.3243A > G mutation is the most prevalent, disease-causing mitochondrial DNA (mtDNA) mutation. In a national cohort study of 48 families harbouring the m.3243A > G mutation, we identified three families in which the mutation appeared to occur sporadically within these families. In thi
  • PMID 27331024
  • Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience.
  • Luigetti M1, Sauchelli D1, Primiano G1, Cuccagna C1, Bernardo D1, Lo Monaco M1, Servidei S1.
  • European journal of neurology.Eur J Neurol.2016 Jun;23(6):1020-7. doi: 10.1111/ene.12954. Epub 2016 Jan 29.
  • BACKGROUND AND PURPOSE: Peripheral neuropathy in mitochondrial diseases (MDs) may vary from a subclinical finding in a multisystem syndrome to a severe, even isolated, manifestation in some patients.METHODS: To investigate the involvement of the peripheral nervous system in MDs extensive electrophys
  • PMID 26822221
  • Disruption of the human COQ5-containing protein complex is associated with diminished coenzyme Q10 levels under two different conditions of mitochondrial energy deficiency.
  • Yen HC1, Liu YC2, Kan CC2, Wei HJ2, Lee SH2, Wei YH3, Feng YH2, Chen CW2, Huang CC4.
  • Biochimica et biophysica acta.Biochim Biophys Acta.2016 May 4;1860(9):1864-1876. doi: 10.1016/j.bbagen.2016.05.005. [Epub ahead of print]
  • BACKGROUND: The Coq protein complex assembled from several Coq proteins is critical for coenzyme Q6 (CoQ6) biosynthesis in yeast. Secondary CoQ10 deficiency is associated with mitochondrial DNA (mtDNA) mutations in patients. We previously demonstrated that carbonyl cyanide-p-trifluoromethoxyphenylhy
  • PMID 27155576


  • ミトコンドリア遺伝子異常と内耳障害
  • 山岨 達也
  • 耳鼻咽喉科臨床 104(8), 533-540, 2011-08-01
  • … Mitochondrial DNA lesions are closely associated with sensorineural hearing loss in approximately 70% of the three most common mitochondrial disorders: MELAS, MERRF, and CPEO. …
  • NAID 10029260261
  • MERRF/MELAS overlap syndrome: A double pathogenic mutation in mitochondrial tRNA genes
  • Nakamura Masakazu,Yabe Ichiro,Sudo Akira,Hosoki Kana,Yaguchi Hiroaki,Saitoh Shinji,Sasaki Hidenao
  • Journal of Medical Genetics 47(10), 659-664, 2010-07-07
  • … Background : Myoclonic epilepsy with ragged-red fibres (MERRF) and mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are established phenotypes of mitochondrial encephalomyopathy. … The m.8356T>C transition in the mitochondrial tRNALys gene is a pathogenic mutations of MERRF. …
  • NAID 120002722535
  • MERRF Syndrome Presenting with Multiple Symmetric Lipomatosis in a Japanese Patient
  • Kobayashi Junpei,Nagao Masahiro,Miyamoto Kazuhito,Matsubara Shiro
  • Internal Medicine 49(5), 479-482, 2010
  • … Myoclonic epilepsy with ragged red fibers (MERRF), also called Fukuharas disease, is sometimes accompanied by the rare symptom of multiple symmetric lipomatosis (MSL). … MSL associated with MERRF has been reported mainly in Caucasians; … We report the case of a 59-year-old Japanese woman with MERRF syndrome associated with A→G substitution at nucleotide 8,344 of mtDNA. …
  • NAID 130000251700


MERRF (Myoclonus epilepsy associated with ragged-red fibers) ・疾患の概要 MERRF (Myoclonus epilepsy associated with ragged-red fibers) は、ミオクローヌスてんかんや小脳症状を特徴とするミトコンドリア病である。 ・ 臨床像 ...
MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized epilepsy, ataxia, weakness, and dementia. Onset is usually in childhood ...


and Ragged Red Fiber disease ( MERRF A8344G ( MERRF , tRNALys),Ragged red fibers in MELAS.jpgSindrome Merrfoverlapping syndrome ,MERRF

リンク元ミトコンドリアミオパチー」「ミトコンドリア脳筋症」「赤色ぼろ線維を伴うミオクローヌスてんかん」「赤色ぼろ線維・ミオクローヌスてんかん症候群」「myoclonic epilepsy and ragged red fibers



mitochondrial myopathy


  • 筋力低下、何らかの中枢神経症状、低身長


  • 症状:外眼筋麻痺
  • 病因:mt DNAの欠失。遺伝性・先天性
  • 2. myoclonus eplilepsy associated with ragged-red fibers MELAS メラス
  • 小児期に発症
  • 症状:突然起こる頭痛、嘔吐、痙攣、意識障害、片麻痺、半盲など。脳卒中様症状を繰り返し、次第に荒廃していく疾患
  • 病因:mt DNAのtRNA Leuコード領域の点変異がほとんど。遺伝性。
  • 症状:ミオクローヌスてんかん。小脳症状。
  • 症状:知的退行
  • 病因:mt DNAのtRNA Lysコード領域の点変異がほとんど。遺伝性



mitochondrial encephalomyopathy


  • ミトコンドリアDNAの変異


病型 (IMD,YN J154)

  • 外眼筋麻痺、四肢筋力低下、感音性難聴、網膜色素変性症、心伝導障害
  • 周期性頭痛、嘔吐、けいれん発作、脳卒中様発作、感音性難聴、糖尿病
  • 3. myoclonus epilepsy associated with ragged-red fibers MERRF
  • ミオクローヌスてんかん、小脳失調


  • 四肢の筋力低下、低身長、感音性難聴、知能低下、糖尿病




myoclonic epilepsy with ragged-red fibersmyoclonic epilepsy and ragged red fibersMERRFMERRF syndromemyoclonus epilepsy associated with ragged-red fibers



myoclonic epilepsy with ragged-red fibersmyoclonic epilepsy and ragged red fibers, myoclonus epilepsy associated with ragged red fibersMERRF

myoclonic epilepsy and ragged red fibers」

  [★] 赤色ぼろ線維・ミオクローヌスてんかん症候群赤色ぼろ線維を伴うミオクローヌスてんかん

MERRFMERRF syndromemyoclonic epilepsy with ragged-red fibers



MERRF syndrome

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