myopathy could well be classified with the above group of congenital myopathies
with typical light microscopic findings because muscles stained with Gomori
trichrome show red material (ragged red) within the muscle fibers.
Electromyogram is normal. Macrosomia and Toni-Fanconi-Debre renal syndrome
may be present. Some mitochondrial myopathies are due to cytochrome C
oxidase deficiency (a specific mitochondrial defect). Lactic acidosis
and pyruvate elevation are constant features.