Table of Contents

Washington University Experience | MUSCLE | Myosin Loss Myopathy | 7A1A (Case 7) EM024 - Copy

Case 7 History ---- The patient is a 23-month-old girl with a history of hypotonia, central hypoventilation and chronic respiratory failure, developmental delay and non-diagnostic EMG of unclear etiology. She was found to have an abnormal brain MRI with diffuse restriction in symmetric patterns in the tectum/deep gray structures and thalami. She was part of the Undiagnosed Diseased Network. Operative procedure: Left quadriceps muscle biopsy. ---- Not shown: Neuromuscular Division diagnosis was probable mitochondrial disorder. Complex III activity was reduced. Complex I and Complex II activities were mildly reduced. Other mitochondrial oxidative enzyme activity levels are normal.

---