Mitochondrial Encephalomyopathies: What Next?

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1996 Jan 1

PMID 8884573

Citations 11

Authors

S DiMauro

Affiliations

Soon will be listed here.

Abstract

In few areas of medicine has progress been more spectacular than in the field of mitochondrial diseases, especially those related to mtDNA mutations. Much remains to be done, however, and this brief review discusses the following areas of research where progress has been more limited or data are still controversial: (1) the molecular basis of respiratory-chain defects due to nuclear DNA mutations; (2) defects of mitochondrial protein importation; (3) defects of intergenomic signalling; (4) pathophysiology of mtDNA-related disorders; (5) ageing and age-related neurodegenerative diseases; (6) therapy; and (7) genetic counselling.

Citing Articles

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Moyamoya syndrome secondary to mitochondrial disease in a patient with partial trisomy 13q14 and 13q31: A novel case report and literature review.

Abdul Rab S, Arabi T, Raheel H, Sabbah B, Zain AlAbidien N, Alsemari A Heliyon. 2023; 9(2):e13466.

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Adaptive optimization of the OXPHOS assembly line partially compensates lrpprc-dependent mitochondrial translation defects in mice.

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Neuroradiologic findings in children with mitochondrial disorder: correlation with mitochondrial respiratory chain defects.

Kim J, Lee S, Kim E, Kim D, Lee Y, Lee J Eur Radiol. 2008; 18(8):1741-8.

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The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options.

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PMID: 16734497 DOI: 10.2165/00023210-200620060-00002.

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