Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy.
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.
de Goede
Christian G E L
CG
Paediatric Neurology, Royal Preston Hospital, Preston, UK.
Kelsey
Anna
A
Kingston
Helen
H
Tomlin
Pamela I
PI
Hughes
M Imelda
MI
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
D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin