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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 13A1A Mitochondriopathy (Case 13) EM 038 - Copy
Case 13 History ---- The patient is a 4 month old girl (former 39 week gestation) with hypotonia, dysmorphic facies and poor feeding. She has a 161kb interstitial deletion on the short arm of chromosome X (Xp21.1). The precise neurological diagnosis remained unclear at the time of biopsy. Operative procedure: Left quadriceps muscle biopsy. ---- 13A1 Electron microscopy shows occasional fibers with abnormally large mitochondria that often are extremely elongated or have other irregular shapes.
