Pathology of skeletal muscle in mitochondrial disorders

Muscle histology is an essential component of the diagnostic work-up for mitochondrial cytopathies and is very important in both ruling in disease as well as ruling out the disease (i.e., alternate diagnoses). A muscle biopsy method must provide tissue for histology, electron microscopy, enzymes and DNA and this can be obtained with a suction-modified 5 mm needle. Proper embedding and processing is important for optimal diagnostic yield. The …