title: X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.
abstract: X-linked myotubular myopathy usually affects male infants with a severe phenotype leading to early death or survival with severe handicaps. Female carriers have been reported manifesting in childhood with slowly progressive muscle weakness only. The authors describe a now 5-year-old girl with prenatal/neonatal onset of an X-linked myotubular myopathy due to a 605delT mutation in the myotubularin gene.
authors.affiliation: Department of Pediatrics and Pediatric Neurology, Ruhr-University Bochum, Germany. Ulrike.Schara@t-online.de
authors.forename: Ulrike
authors.initials: U
authors.lastname: Schara
authors.forename: Wolfram
authors.initials: W
authors.lastname: Kress
authors.forename: Jens
authors.initials: J
authors.lastname: Tücke
authors.forename: Wilhelm
authors.initials: W
authors.lastname: Mortier
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D004303:Dosage Compensation, Genetic; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008214:Lymphocytes / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000473:pathology; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology; D009928:Organ Specificity; D010641:Phenotype; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D017384:Sequence Deletion
chemical_list: D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin