mitochondrial encephalomyopathy

ミトコンドリア脳筋症

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/01/21 13:26:33」(JST)

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Mitochondrial encephalomyopathy
Classification and external resources
ICD-9	277.87
MeSH	D017237

A Mitochondrial encephalomyopathy is a form of encephalomyopathy that is associated with a mitochondrial disease.

Examples include MELAS and MERRF. These conditions can sometimes present together.

KSS is sometimes included in this category, but it is not included in this category in MeSH.

References

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• 1. ミトコンドリアミオパシー：臨床的特徴および診断 mitochondrial myopathies clinical features and diagnosis
• 2. ミトコンドリアミオパシー：治療 mitochondrial myopathies treatment
• 3. 眼瞼下垂症の概要 overview of ptosis
• 4. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn
• 5. 代謝性ミオパチーへのアプローチ approach to the metabolic myopathies

English Journal

• Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming.

• Picard M1, Zhang J2, Hancock S3, Derbeneva O1, Golhar R4, Golik P5, O'Hearn S6, Levy S7, Potluri P1, Lvova M1, Davila A1, Lin CS1, Perin JC8, Rappaport EF8, Hakonarson H3, Trounce IA9, Procaccio V10, Wallace DC11.
• Proceedings of the National Academy of Sciences of the United States of America.Proc Natl Acad Sci U S A.2014 Sep 5. pii: 201414028. [Epub ahead of print]
• Variation in the intracellular percentage of normal and mutant mitochondrial DNAs (mtDNA) (heteroplasmy) can be associated with phenotypic heterogeneity in mtDNA diseases. Individuals that inherit the common disease-causing mtDNA tRNALeu(UUR) 3243A>G mutation and harbor ∼10-30% 3243G mutant mtD
• PMID 25192935

• Phenotypic Analysis of Epilepsy in the Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes-Associated Mitochondrial DNA A3243G Mutation.

• Demarest ST1, Whitehead MT1, Turnacioglu S1, Pearl PL2, Gropman AL3.
• Journal of child neurology.J Child Neurol.2014 Sep;29(9):1249-56. doi: 10.1177/0883073814538511. Epub 2014 Jul 17.
• The A to G mitochondrial DNA point mutation at position 3243 (A3243G) is the most common cause of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS), a systemic multiorgan disease. Epilepsy is a common finding but there is wide phenotypic variation that has not been th
• PMID 25038129

• Defects of mitochondrial DNA replication.

• Copeland WC.
• Journal of child neurology.J Child Neurol.2014 Sep;29(9):1216-24. doi: 10.1177/0883073814537380. Epub 2014 Jun 30.
• Mitochondrial DNA is replicated by DNA polymerase γ in concert with accessory proteins such as the mitochondrial DNA helicase, single-stranded DNA binding protein, topoisomerase, and initiating factors. Defects in mitochondrial DNA replication or nucleotide metabolism can cause mitochondrial geneti
• PMID 24985751

Japanese Journal

• ミダゾラムとデクスメデトミジン塩酸塩を併用したLeigh脳症児に対する静脈内鎮静法下歯科治療

• 日歯麻誌 46(2), 80-82, 2018
• NAID 130006707978

• 高CK血症を伴うミトコンドリア脳筋症患者の歯科治療のための日帰り全身麻酔経験

• 日歯麻誌 46(1), 31-33, 2018
• NAID 130006313419

• MELASによる脳卒中様発作 (特集 Stroke-Like Diseases : 鑑別時に注意を要する5病態)

• Brain and nerve 69(2), 111-117, 2017-02
• NAID 40021095890

Related Pictures

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★リンクテーブル★

リンク元	「ミトコンドリア脳筋症」
関連記事	「mitochondrial」

「ミトコンドリア脳筋症」

　　[★]

英

mitochondrial encephalomyopathy

関

ミトコンドリア筋症、ミトコンドリア心筋症

病因

• ミトコンドリアDNAの変異

遺伝

• 母性遺伝

病型 (IMD,YN J154)

• 1. 慢性進行性外眼筋麻痺症候群 chronic progressive external opthalmoplegia CPEO=Kerns-Shy-Sayre KSS

• 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

• 2. mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes MELAS

• 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

共通症状(YN.J154)

• 四肢の筋力低下、低身長、感音性難聴、知能低下、糖尿病

国試

• 104I058

「mitochondrial」

　　[★]

• adj.

• ミトコンドリアの

関

mitochondria、mitochondrially、mitochondrion