Identification of Disease-Causing Mutations by Functional Complementation of Patient-Derived Fibroblast Cell Lines.

Abstract excerpt

Diagnosis of mitochondrial disorders is still hampered by their phenotypic and genotypic heterogeneity. In many cases, exome sequencing, the state-of-the-art method for genetically diagnosing mitochondrial disease patients, does not allow direct identification of the disease-associated gene but rather results in a list of variants in candidate genes. Here, we present a method to validate the disease-causing...

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