title: X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation.
abstract: X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male infants present severe hypotonia, and generalized muscle weakness, and the disorder is most often complicated by respiratory failure. Herein, we describe a family with 2 infants with XLMTM which was diagnosed by gene analysis and muscle biopsy. In both cases, histological findings of muscle showed severely hypoplastic muscle fibers with centrally placed nuclei. From the family gene analysis, the Arg486STOP mutation in the MTM1 gene was confirmed.
authors.affiliation: Department of Pediatrics, CHA Gangnam Medical Center, CHA University, Seoul, Korea.
authors.forename: Ji Hyun
authors.initials: JH
authors.lastname: Jeon
authors.forename: Ran
authors.initials: R
authors.lastname: Namgung
authors.forename: Min Soo
authors.initials: MS
authors.lastname: Park
authors.forename: Kook In
authors.initials: KI
authors.lastname: Park
authors.forename: Chul
authors.initials: C
authors.lastname: Lee
authors.forename: Jin Sung
authors.initials: JS
authors.lastname: Lee
authors.forename: Se Hoon
authors.initials: SH
authors.lastname: Kim
mesh_terms: D018389:Codon, Nonsense; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics / Q000473:pathology; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin