title: [Myotubular myopathy. Case report and review of the literature].
abstract: The first Hungarian report of a case of myotubular myopathy is presented here, which is a recessive congenital disorder linked to X chromosome. The patient presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis and respiratory insufficiency. The biopsy showed the appearance of myotubular myopathy. The diagnosis was further confirmed by genetic analysis revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene.
authors.affiliation: Szegedi Tudományegyetem, Altalános Orvostudományi Kar, Pathológiai Intézet. kovacsskrisztian@hotmail.com
authors.forename: S Krisztián
authors.initials: SK
authors.lastname: Kovács
authors.forename: József
authors.initials: J
authors.lastname: Korcsik
authors.forename: Hajnalka
authors.initials: H
authors.lastname: Szabó
authors.forename: István
authors.initials: I
authors.lastname: Bódi
authors.forename: Márta
authors.initials: M
authors.lastname: Katona
authors.forename: Edit
authors.initials: E
authors.lastname: Bereg
authors.forename: Emoke
authors.initials: E
authors.lastname: Endreffy
authors.forename: Sándor
authors.initials: S
authors.lastname: Túri
authors.forename: Tibor
authors.initials: T
authors.lastname: Hortobágyi
authors.forename: László
authors.initials: L
authors.lastname: Sztriha
mesh_terms: D001706:Biopsy; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D040181:Genetic Diseases, X-Linked / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000209:etiology; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology*; D011379:Prognosis; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D013941:Thymine