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bibliographicCitation Jungbluth H, Sewry CA, Buj-Bello A, Kristiansen M, Ørstavik KH, Kelsey A, Manzur AY, Mercuri E, Wallgren-Pettersson C, Muntoni F. Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. Neuromuscul Disord. 2003 Jan;13(1):55–9. doi: 10.1016/s0960-8966(02)00194-3. PMID: 12467733.
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