Respiratory chain complexes defects: Complex I deficiency myopathy form with exercise intolerance (childhood and adult forms)
Incidence
Very rare. Some times complex I defect may manifest as a multisystem form in childhood. No cases reported in Saudi Arabia.
Clinical Characteristics
Muscle Sx., cramps. Weakness, exercise intolerance, lactic acidemia. Weakness may become permanent as the disease progresses.
Precipitants
Exercise induce lactic acidosis
Provocation Tests
Exercise.
Diagnostic Procedures
EB-F, OB-muscle