title: Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy.
abstract: In children with a myopathy, muscle biopsy, together with the clinical presentation, can guide further investigations. The presence of centrally located nuclei suggests a myotubular myopathy, and gene testing may confirm this diagnosis. We describe a male child with a mild form of X-linked myotubular myopathy for which repeated muscle biopsy did not show the characteristic pattern of centrally located nuclei. Myotubular myopathy was not contemplated, therefore, until a maternally related relative was shown to have the disorder. Genetic testing showed that the index case carried the same mutation in his MTM1 gene as this relative.
authors.affiliation: Paediatric Neurology, Royal Preston Hospital, Preston, UK.
authors.forename: Christian G E L
authors.initials: CG
authors.lastname: de Goede
authors.forename: Anna
authors.initials: A
authors.lastname: Kelsey
authors.forename: Helen
authors.initials: H
authors.lastname: Kingston
authors.forename: Pamela I
authors.initials: PI
authors.lastname: Tomlin
authors.forename: M Imelda
authors.initials: MI
authors.lastname: Hughes
mesh_terms: D001706:Biopsy; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000473:pathology*; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation; D020914:Myopathies, Structural, Congenital / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; 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