Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia
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DOI: 10.1002/humu.23262
Abstract: We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized… read more here.
Keywords: cause mitochondrial; recessive mutations; mutations msto1; msto1 cause ... See more keywords
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Sign Up to like & getrecommendations! Published in 2018 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.01.008
Abstract: Respiratory chain complex I deficiency is the most frequently identified biochemical defect in childhood mitochondrial diseases. Clinical symptoms range from fatal infantile lactic acidosis to Leigh syndrome and other encephalomyopathies or cardiomyopathies. To date, disease-causing… read more here.
Keywords: cause mitochondrial; ndufb8 mutations; complex deficiency; mutations cause ... See more keywords
General anesthetics cause mitochondrial dysfunction and reduction of intracellular ATP levels
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DOI: 10.1371/journal.pone.0190213
Abstract: General anesthetics are indispensable for effective clinical care. Although, the mechanism of action of general anesthetics remains controversial, lipid bilayers and proteins have been discussed as their targets. In this study, we focused on the… read more here.
Keywords: cause mitochondrial; anesthetics cause; atp; general anesthetics ... See more keywords