Fig. 1

Integrated approach, imaging, and types of muscle biopsy exams. Patient evaluation should be performed by a multiprofessional team with integration of: neurologic, surgical, laboratorial, radiological, and therapy clinics for neuromuscular patient best care. The adequate diagnostic approach includes the immediate separation of muscle fragments for glutaraldehyde fixation for electron microscopy, liquid nitrogen freeze in order to preserve histochemical reactions and provide adequate samples for immunohistochemical, molecular, and mitochondrial respiratory chain enzymatic studies. Evaluation of a patient with central core congenital myopathy. a Computed tomography demonstrated severe right vastus lateralis muscle fat replacement (yellow arrow) with relative rectus femoris preservation (blue arrow). b and c Rectus femoris muscle biopsy of the same patient demonstrating round core structures (red arrows) devoid of mitochondria. a Computed tomography of the pelvis, thighs and legs. b SDH 100x, c transmission electron microscopy 2.500x