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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 5AMitochondrial myopathy TWINKLE (Case 5) HE-40
Case 5 History (Thanks Dr. Chunyu (Hunter) Cai) ---- The patient is a 44 year old woman with a one-year history of proximal and distal weakness, oculopharyngeal dystrophy and fatigue, rule out muscular dystrophy or mitochondrial disorder. There is an autosomal dominant family history over four generations. Procedure: Left deltoid muscle biopsy. ---- 5A1 H&E shows only mild variation in muscle fiber size, a few internal nuclei and occasional somewhat basophilic muscle fibers. (H&E)
