Respiratory chain complex I deficiency

Denise M. Kirby; Megan Crawford; Maureen Cleary; H H Dahl; Xenia Dennett; David R. Thorburn

doi:10.1212/wnl.52.6.1255

April 1, 1999Neurology

Respiratory chain complex I deficiency

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Key Points

To characterize the clinical presentation of respiratory chain complex I deficiency and identify factors contributing to its frequent underdiagnosis.
Assessed clinical features, biochemical hallmarks, and tissue-specific patterns associated with mitochondrial complex I dysfunction.
Clinical manifestations vary widely across individuals, often demonstrating pronounced tissue specificity.
Traditional indicators of mitochondrial disease, such as lactic acidosis and atypical mitochondrial morphology, are absent in a significant proportion of patients, driving underdiagnosis.

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Abstract

Heterogeneous clinical features, tissue specificity, and absence of lactic acidosis or abnormal mitochondrial morphology in many patients have resulted in underdiagnosis of respiratory chain complex I deficiency.

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Cite This Study

Kirby et al. (1999) studied this question.

synapsesocial.com/papers/69dabea84e9a02dbaa6842c5 https://doi.org/10.1212/wnl.52.6.1255

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Respiratory chain complex I deficiency

Key Points

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Abstract

Discussion

Cite This Study

Respiratory chain complex I deficiency

Key Points

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Abstract

Discussion

Cite This Study

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