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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 39A1A (Case 39) EM006 - CopyA
Case 39 History ---- The patient is an 11-year-old boy with a history of hypotonia and developmental delay. Genetic and metabolic work-up were unrevealing. His creatine kinase level is normal, and he has a normal EMG/nerve conduction study. Operative procedure: Right deltoid muscle biopsy. ---- 39A1-4 Electron microscopy was performed on the biopsy material and showed sarcoplasmic and subsarcolemmal grouping of mitochondria that are often associated with lipid droplets. The mitochondria in these locations vary in size, shape and number. There is no evidence of abnormal cristae patterns or inclusions. These findings represent minimal mitochondriopathy but do not reach the level of pathology typical of mitochondrial myopathy.
