X-Linked myotubular myopathy: Report of a case with novel mutation

Journal of Child Neurology

Volumn 22, Issue 4, 2007, Pages 447-451

  Hortobágyi, Tibor ^a   Szabó, Hajnalka ^a   Kovács, Krisztián S ^a   Bódi, István ^c   Bereg, Edit ^c   Katona, Márta ^a   Biancalana, Valérie ^b   Túri, Sándor ^a   Sztriha, László ^a  

^a UNIVERSITY OF SZEGED   (Hungary)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

Centronuclear myopathy; MTM1; Myotubularin; X linked myotubular myopathy

Indexed keywords

GENE PRODUCT; PROTEIN MTM1; UNCLASSIFIED DRUG;

ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; DISEASE SEVERITY; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NEWBORN; PRIORITY JOURNAL; RESPIRATORY FAILURE; X CHROMOSOME RECESSIVE DISORDER;

DNA MUTATIONAL ANALYSIS; GENETIC DISEASES, X-LINKED; HUMANS; INFANT, NEWBORN; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCLE FIBERS; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PROTEIN-TYROSINE-PHOSPHATASE;

EID: 34250354708     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807301930     Document Type: Article

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