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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 22A1A (Case 22) EM012 - CopyA

Case 22 History (Thanks Dr. Chunyu (Hunter) Cai) ---- The patient is a 3 year old girl with global developmental delay, hypotonia, and myopathic features; she has a high arched palate, a narrow/bell-shaped chest, and facial weakness on examination. Operative procedure: Left deltoid muscle biopsy. ---- 22A1A-C There is minimal increase in mitochondria, mostly in the interfibrillar area. The mitochondria are enlarged, associated with fat droplets and loss of normal cristae.

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