title: X-linked myotubular myopathy: report of a case with novel mutation.
abstract: Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe X-linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis, and respiratory insufficiency. Muscle biopsy showed features of myotubular myopathy. The diagnosis was confirmed and further specified by genetic analysis, revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene. This case underlines the importance of interdisciplinary analysis of congenital muscle diseases, including histomorphological and genetic investigations.
authors.affiliation: Department of Histopathology University of Szeged, Szeged, Hungary. tibor.hortobagyi@kingsch.nhs.uk
authors.forename: Tibor
authors.initials: T
authors.lastname: Hortobágyi
authors.forename: Hajnalka
authors.initials: H
authors.lastname: Szabó
authors.forename: Krisztián S
authors.initials: KS
authors.lastname: Kovács
authors.forename: István
authors.initials: I
authors.lastname: Bódi
authors.forename: Edit
authors.initials: E
authors.lastname: Bereg
authors.forename: Márta
authors.initials: M
authors.lastname: Katona
authors.forename: Valérie
authors.initials: V
authors.lastname: Biancalana
authors.forename: Sándor
authors.initials: S
authors.lastname: Túri
authors.forename: László
authors.initials: L
authors.lastname: Sztriha
mesh_terms: D004252:DNA Mutational Analysis; D040181:Genetic Diseases, X-Linked; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D046529:Microscopy, Electron, Transmission / Q000379:methods; D018485:Muscle Fibers, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor
chemical_list: D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin