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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 ...
The Myopathic Form Of Coenzyme Q10 Deficiency Is Caused By Mutations In The Electron-Transferring-Flavoprotein Dehydrogenase (Etfdh) Gene
(Oxford Univ Press, 2007)
Coenzyme Q10 (CoQ10) deficiency is an autosomal recessive disorder with heterogenous phenotypic manifestations and genetic background. We describe seven patients from five independent families with an isolated myopathic ...
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 ...