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Ultrastructural findings of patient III-2 in family 1 are shown. The enclosed section of E is enlarged in F. The autophagic vacuoles containing myeloid bodies and glycogen granules are located among myofibrils (A, B), and neighboring myonuclei (C–F). Myonuclei (indicated by N) located in subsarcolemma (C) or sarcoplasm (D) are irregularly shaped and have indentation (an arrow). Scale bars are embedded in each panel.
