LAUSR

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

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0 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