Congenital myotubular myopathy with a novel MTM1 gene mutation in a premature infant presenting with ventilator dependency and intrahepatic cholestasis

Journal of Child Neurology

Volumn 27, Issue 1, 2012, Pages 99-104

  Lee, Inn Chi ^a   Su, Pen Hua ^a   Chen, Jia Yuh ^a   Hu, Jui Ming ^a   Lu, Jang Jih ^b   Ng, Yan Yan ^a  

^a CHUNG SHAN MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

Author keywords

Cholestasis; Hypotonia; MTM1; Myotubular myopathy; Neuromuscular; Ventilator

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE;

ABDOMINAL DISTENSION; ABDOMINAL PAIN; ALANINE AMINOTRANSFERASE BLOOD LEVEL; APGAR SCORE; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BRADYCARDIA; CASE REPORT; CENTRONUCLEAR MYOPATHY; CESAREAN SECTION; ENDOTRACHEAL TUBE; FACIAL NERVE PARALYSIS; GENE; GENE MUTATION; GENETICS; GESTATIONAL AGE; HEART BEAT; HUMAN; HYPERBILIRUBINEMIA; INFANT; INTRAHEPATIC CHOLESTASIS; JAUNDICE; LIVER DYSFUNCTION; LUNG INFECTION; MTM1 GENE; MUSCLE HYPOTONIA; NEWBORN; NEWBORN INTENSIVE CARE; OPHTHALMOPLEGIA; PHYSICIAN; PLEURA EFFUSION; PREMATURITY; PRIORITY JOURNAL; RECURRENT DISEASE; VENTILATOR;

DNA MUTATIONAL ANALYSIS; HUMANS; INFANT, NEWBORN; MALE; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PREMATURE BIRTH; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; VENTILATORS, MECHANICAL;

EID: 84863051998     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811414419     Document Type: Article

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