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Structured analysis of the natural history is missing for many rare diseases, e.g. for X-Linked Myotubular Myopathy (MTM) (OMIM # 310400) with an incidence of 2:100.000 male neonates. Most MTM patients die in early childhood, but some survive to school age. Due to the small number of patients quantitative analyses (classical statistics) are not feasible for rare diseases. Therefore, we applied qualitative...
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