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- Title
Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy.
- Authors
Christian GEL de Goede; Anna Kelsey; Helen Kingston; Pamela I Tomlin; M Imelda Hughes
- 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.
- Subjects
MUSCLE diseases; BIOPSY; HUMAN chromosome abnormality diagnosis; PEDIATRICS; GENETICS
- Publication
Developmental Medicine & Child Neurology, 2005, Vol 47, Issue 12, p835
- ISSN
0012-1622
- Publication type
Article
- DOI
10.1017/S0012162205001763