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Titulo: MITOCHONDRIAL DISORDERS OF THE NERVOUS SYSTEM:

CLINICAL, BIOCHEMICAL, AND MOLECULAR GENETIC FEATURES

Autor: Dominic Thyagarajan and Edward Byrne

Contenido:

I. Introduction

II. Historical Considerations

III. Genetics and Pedigree Studies

IV. Clinical Features

V. Important Clinical Questions

A. Uneven Segregation of Mutant and Wild-Type mtDNA

B. Interaction of mtDNA Mutation with Genetic Background

C. Different Energy Requirements of Tissues

VI. Major Mitochondrial Syndromes

A. Progressive Limb Myopathy without CPEO

B. Recurrent Myoglobinuria

C. Chronic Progressive External Ophthalmoplegia Syndromes

D. KSS and Other CPEO Syndromes

E. Neuropathy

E Encephalomyopathies

VII. Biochemical Features

A. Complex I Deficiency

B. Complex II Deficiency

C. Complex IV Deficiency

D. Cytochrome b Deficiency

E. Complex V Deficiency

E Coenzyme Q Deficiency

VIII. Diagnostic Approaches

A. Initial Approach

B. Mitochondrial Disease Workup

C. Summary

IX. Treatment of Mitochondrial Disorders

A. Physical and Supportive Therapies