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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 28A1A (Case 28) muscle_033 - Copy
Case 28 History ---- The patient is a 69-year-old male with possible Hereditary Inclusion Body Myopathy type 2 (HIBM2), which is a rare, autosomal recessive genetic muscle disorder caused by mutations in the GNE gene. This patient has distal weakness and EMG findings consistent with chronic non-irritable myopathy. Procedure, muscle biopsy, left triceps. Notice the sarcolemmal protrusions with focal mitochondrial deposits.
