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The mitochondrial myopathies are a rare group of
conditions affecting the respiratory chain and oxidative phosphorylation. A
total of five protein complexes make up the mitochondrial electron
transport chain. The clinical consequences of a deficiency
in their normal
physiology is associated with numerous syndromes as described in this
section and presented in this book. Because of the complexity of this group of diseases, an overview is presented here, followed by
a short description of the five individual deficiencies. Table C-2 lists the names of the
associated medical disorders that are described as specific syndromes in this book.
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“Mitochondrial medicine” was defined by Luft and
Moyan-Hughes in the late 1980s and became the subject of numerous investigations of the metabolic disorders affecting the muscles and the
brain. Mitochondria were first recognized in 1898
by Bend. The term comes
from the Greek mitos (thread) and chondros (grain). The concept of cellular respiration
was defined and studied in the 1920s.
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In the 1970s and mid-1980s, the standard
classification of ...