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13. Congenital myotubular myopathy with a novel MTM1 gene mutation in a premature infant presenting with ventilator dependency and intrahepatic cholestasis. Lee IC; Su PH; Chen JY; Hu JM; Lu JJ; Ng YY J Child Neurol; 2012 Jan; 27(1):99-104. PubMed ID: 21881007 [TBL] [Abstract][Full Text] [Related]
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