title: Congenital myotubular myopathy with a novel MTM1 gene mutation in a premature infant presenting with ventilator dependency and intrahepatic cholestasis.
abstract: Myotubular myopathy is a rare congenital disease characterized by hypotonia and respiratory compromise at birth in affected males. It causes high neonatal mortality. Most surviving newborns need prolonged ventilation and have significantly delayed motor development. Although all patients with congenital myotubular myopathy have respiratory problems such as atelectasis and recurrent lung infections, concurrent neonatal intrahepatic cholestasis is rare. We report a newborn with a myotubular myopathy, ventilator dependency, recurrent lung infections and pleural effusion, facial diplegia, ophthalmoplegia, and progressive intrahepatic cholestasis. A genetic study showed a novel mutation of the MTM1gene: c.1142 G>A (R381Q). We suggest that physicians consider probable concurrent disorders of other organs in neonates with congenital myotubular myopathy.
authors: Department of Pediatrics, Chung-Shan Medical University Hospital, and Institute of Medicine, School of Medicine, Chung-Shan Medical University, Taichung, Taiwan. y610@mercury.csmu.edu.tw
authors: Inn-Chi
authors: IC
authors: Lee
authors: Pen-Hua
authors: PH
authors: Su
authors: Jia-Yuh
authors: JY
authors: Chen
authors: Jui-Ming
authors: JM
authors: Hu
authors: Jang-Jih
authors: JJ
authors: Lu
authors: Yan-Yan
authors: YY
authors: Ng
mesh_terms: D004252:DNA Mutational Analysis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D020914:Myopathies, Structural, Congenital / Q000235:genetics*; D047928:Premature Birth / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics*; D012122:Ventilators, Mechanical
chemical_list: D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin