Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study

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X-linked myotubular myopathy (XLMTM) is a rare disease of skeletal muscle due to mutations in the MTM1 gene affecting around 1:50,000 male newborns. Most patients have the severe generalized form and develop serious life-threatening complications at birth or shortly after. Long term survivors with severe XLMTM remain often non-ambulant and need ventilation support and assistance for normal daily activities. Less commonly, patients develop a mild phenotype, sometimes even starting during adulthood.

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