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Article

Respiratory Chain Encephalomyopathies: A Diagnostic Classification

13 Feb 2008

Abstract excerpt

Mitochondrial encephalomyopathies are a heterogenous group of disorders with various biochemical defects of the respiratory chain (RC). Due to the considerable phenotypic diversity of the RC encephalomyopathies, they are included in the differential diagnosis of many cases of multisystem disease. Aside from clinical evaluation and family history, diagnosis can be supported by many other sources. The complexity of...

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PMID: 8864705
DOI: 10.1159/000117269

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