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Autor:
Leslie Raffini, Oscar H. Mayer, Alicia M. Alcamo, Kathleen M. Loomes, Susan E. Matesanz, Sabrina W. Yum, Hilary B. Whitworth, Jeremy M. Neese
Publikováno v:
Neuromuscular Disorders. 31:651-655
X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy characterized by profound hypotonia and poor respiratory effort at birth. The condition is associated with multiple morbidities including chronic respiratory insufficiency, feeding tu