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Semin Neurol 2001; 21(3): 269-274
DOI: 10.1055/s-2001-17944
DOI: 10.1055/s-2001-17944
Prenatal Diagnosis of Disorders of Energy Metabolism
Further Information
Publication History
Publication Date:
18 October 2001 (online)
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ABSTRACT
Prenatal diagnosis for disorders of energy metabolism is problematic because of the lack of information about the efficacy of the procedures currently employed. Difficulties arise due to uncertainty as to the nuclear or mitochondrial DNA origin of respiratory chain abnormalities, and also as to the tissue specificity of defective gene expression. Here, we look at the current experience with prenatal diagnosis of these disorders and examine possible future directions.
KEYWORD
Prenatal diagnosis - mitochondrial disease
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