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INTRODUCTION

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Mitochondrial myopathies and neuropathies or neuromyopathies refer to a heterogeneous group of disorders caused by dysfunction of mitochondria.110 Mitochondrial disorders can be classified according to the associated biochemical, genetic defects, or clinical phenotype (Tables 30-1,30-2,30-3). One difficulty in classifying patients by any particular scheme is the clinical-phenotypic heterogeneity associated with specific mitochondrial mutations and the genetic heterogeneity in well-defined clinical phenotypes that are seen with mitochondrial disorders.

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TABLE 30-1.CLASSIFICATION OF THE MITOCHONDRIAL MYOPATHIES BY METABOLIC FUNCTION AFFECTED
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Table Graphic Jump Location
TABLE 30-2.CLASSIFICATION OF MITOCHONDRIAL DISORDERS BY GENETIC MUTATIONS

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