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・ Mitra decurtata
・ Mitra deprofundis
・ Mitra deynzeri
・ Mitra doliolum
・ Mitra dondani
・ Mitra dovpeledi
・ Mitochondrial ferritin
・ Mitochondrial fission
・ Mitochondrial fission factor
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・ Mitochondrial intermembrane space
・ Mitochondrial matrix
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Mitochondrial neurogastrointestinal encephalopathy syndrome
・ Mitochondrial optic neuropathies
・ Mitochondrial permeability transition pore
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・ Mitochondrial protein-transporting ATPase
・ Mitochondrial pyruvate carrier 2
・ Mitochondrial ribosomal death-associated protein 3
・ Mitochondrial ribosomal protein L41
・ Mitochondrial ribosomal protein L42
・ Mitochondrial ROS
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・ Mitochondrial translational release factor 1
・ Mitochondrial trifunctional protein
・ Mitochondrial trifunctional protein deficiency


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Mitochondrial neurogastrointestinal encephalopathy syndrome : ウィキペディア英語版
Mitochondrial neurogastrointestinal encephalopathy syndrome

Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE), also called myoneurogastrointestinal encephalopathy syndrome or POLIP syndrome, is a rare autosomal recessive mitochondrial disease usually appearing between the second and fifth decades of life. Unlike typical mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations, MNGIE is caused by mutations in the TYMP gene, which encodes the enzyme thymidine phosphorylase.〔 A secondary form of MNGIE, called MNGIE without leukoencephalopathy, can be caused by mutations in the POLG gene.〔
==Signs and symptoms==
MNGIE is a multisystem disorder. Gastrointestinal symptoms may include gastrointestinal dysmotility, possibly resulting in pseudo-obstruction in which the muscular contractions (peristalsis) of the gastrointestinal tract become inefficient, causing malabsorption . Borborygmi (stomach rumbling), early satiety, diarrhea, constipation, gastroparesis, nausea, vomiting, weight loss, diverticulitis. Neurological symptoms may include diffuse leukoencephalopathy, peripheral neuropathy, and myopathy. Ocular symptoms may include retinal degeneration, ophthalmoplegia (paralysis of eye muscles), ptosis (drooping eyelids). Those with MNGIE are often thin, experiencing continuous weight loss.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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