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Use Of Whole-Exome Sequencing To Determine The Genetic Basis Of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
(Amer Medical Assoc, 2014)
IMPORTANCE Mitochondrial disorders have emerged as a common cause of inherited disease, but their diagnosis remains challenging. Multiple respiratory chain complex defects are particularly difficult to diagnose at the ...
Nuclear Factors Involved In Mitochondrial Translation Cause A Subgroup Of Combined Respiratory Chain Deficiency
(2011)
Mutations in several mitochondrial DNA and nuclear genes involved in mitochondrial protein synthesis have recently been reported in combined respiratory chain deficiency, indicating a generalized defect in mitochondrial ...